Canonical Allele Identifier: CA2612662077

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17407204-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17407204C>T , CM000673.2:g.17407204C>T	GRCh38
NC_000011.9:g.17428751C>T , CM000673.1:g.17428751C>T	GRCh37
NC_000011.8:g.17385327C>T	NCBI36
NG_008867.1:g.74699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2490-75G>A
ENST00000529967.6:n.1185G>A
ENST00000532220.2:n.653-75G>A
ENST00000642611.2:n.2990-75G>A
ENST00000645004.2:n.420-75G>A
ENST00000682051.1:n.2937-75G>A
ENST00000682110.1:n.2990-75G>A
ENST00000682140.1:c.2918-75G>A	ENSP00000507829.1:n.2918-75G>A
ENST00000682185.1:n.4226-75G>A
ENST00000682204.1:c.*1059-75G>A	ENSP00000507094.1:n.*1059-75G>A
ENST00000682215.1:n.2987-75G>A
ENST00000682288.1:c.*1352-75G>A	ENSP00000507506.1:n.*1352-75G>A
ENST00000682442.1:n.3111-75G>A
ENST00000682528.1:n.2992G>A
ENST00000682673.1:n.2934-75G>A
ENST00000682805.1:n.2987-75G>A
ENST00000682965.1:c.2918-75G>A	ENSP00000508229.1:n.2918-75G>A
ENST00000683093.1:n.3089-75G>A
ENST00000683136.1:c.2918-75G>A	ENSP00000507768.1:n.2918-75G>A
ENST00000683153.1:n.3146-75G>A
ENST00000683365.1:n.3092-75G>A
ENST00000683377.1:n.2990-75G>A
ENST00000683456.1:c.2926G>A	ENSP00000508318.1:p.Gly976Arg
ENST00000683522.1:n.2990-75G>A
ENST00000683562.1:c.*1090-75G>A	ENSP00000508265.1:n.*1090-75G>A
ENST00000683693.1:n.2992G>A
ENST00000683725.1:c.2921-75G>A	ENSP00000507496.1:n.2921-75G>A
ENST00000684010.1:n.2910G>A
ENST00000684157.1:n.2990-75G>A
ENST00000684253.1:n.2893-75G>A
ENST00000684288.1:c.*1093-75G>A	ENSP00000507143.1:n.*1093-75G>A
ENST00000684313.1:n.2422-75G>A
ENST00000684332.1:n.3063-75G>A
ENST00000684371.1:n.3096-75G>A
ENST00000684404.1:n.2987-29G>A
ENST00000684442.1:n.2990-75G>A
ENST00000684555.1:c.*1133-75G>A	ENSP00000507705.1:n.*1133-75G>A
ENST00000684571.1:c.2762-75G>A	ENSP00000506935.1:n.2762-75G>A
ENST00000684593.1:c.*2626-75G>A	ENSP00000507005.1:n.*2626-75G>A
ENST00000684711.1:c.*1317-75G>A	ENSP00000506841.1:n.*1317-75G>A
ENST00000302539.9:c.2924-75G>A	ENSP00000303960.4:n.2924-75G>A
ENST00000389817.8:c.2921-75G>A MANE Select	ENSP00000374467.4:n.2921-75G>A
ENST00000642271.1:c.2918-75G>A	ENSP00000493749.1:n.2918-75G>A
ENST00000642579.1:c.1005-75G>A
ENST00000642611.1:n.2875-75G>A
ENST00000642902.1:c.2756-128G>A
ENST00000643260.1:c.2921-75G>A	ENSP00000494450.1:n.2921-75G>A
ENST00000643562.1:c.*897-75G>A	ENSP00000496124.1:n.*897-75G>A
ENST00000643925.1:c.970G>A
ENST00000644447.1:c.1277-75G>A	ENSP00000496282.1:n.1277-75G>A
ENST00000644484.1:c.*1130-29G>A	ENSP00000493558.1:n.*1130-29G>A
ENST00000644542.1:c.*2626-75G>A	ENSP00000495532.1:n.*2626-75G>A
ENST00000644675.1:c.*1093-75G>A	ENSP00000494567.1:n.*1093-75G>A
ENST00000644757.1:c.*1131G>A	ENSP00000495085.1:n.*1131G>A
ENST00000644772.1:c.2987-75G>A	ENSP00000494321.1:n.2987-75G>A
ENST00000645004.1:n.60-75G>A
ENST00000645076.1:c.2173-128G>A
ENST00000645417.1:c.87-75G>A
ENST00000645744.1:c.*1185-75G>A	ENSP00000494564.1:n.*1185-75G>A
ENST00000645760.1:c.3196-75G>A
ENST00000645884.1:c.2926G>A	ENSP00000495516.1:p.Gly976Arg
ENST00000646003.1:c.*877-75G>A	ENSP00000495259.1:n.*877-75G>A
ENST00000646207.1:c.*1388-75G>A	ENSP00000495025.1:n.*1388-75G>A
ENST00000646276.1:c.*1194-75G>A	ENSP00000496070.1:n.*1194-75G>A
ENST00000646592.1:c.2152G>A
ENST00000646902.1:c.2918-75G>A	ENSP00000494101.1:n.2918-75G>A
ENST00000646993.1:c.*1317-75G>A	ENSP00000493720.1:n.*1317-75G>A
ENST00000647013.1:c.2927-75G>A	ENSP00000496741.1:n.2927-75G>A
ENST00000647015.1:c.2672-75G>A	ENSP00000495389.1:n.2672-75G>A
ENST00000647086.1:c.*2651-75G>A	ENSP00000493677.1:n.*2651-75G>A
ENST00000647158.1:c.*1062-75G>A	ENSP00000495744.1:n.*1062-75G>A
ENST00000302539.8:c.2924-75G>A	ENSP00000303960.4:n.2924-75G>A
ENST00000389817.7:c.2921-75G>A	ENSP00000374467.3:n.2921-75G>A
ENST00000526921.5:n.605-75G>A
ENST00000527905.5:c.2791-75G>A	ENSP00000431653.1:n.2791-75G>A
ENST00000529967.5:n.590-75G>A
NM_000352.4:c.2921-75G>A	NP_000343.2:n.2921-75G>A
NM_001287174.1:c.2924-75G>A	NP_001274103.1:n.2924-75G>A
XM_011520331.1:c.2921-75G>A	XP_011518633.1:n.2921-75G>A
XM_011520332.1:c.2924-75G>A	XP_011518634.1:n.2924-75G>A
XM_011520333.1:c.1421-75G>A	XP_011518635.1:n.1421-75G>A
XM_011520334.1:c.2929G>A	XP_011518636.1:p.Gly977Arg
XR_930890.1:n.2987-75G>A
XR_930891.1:n.2987-75G>A
XR_930892.1:n.2887-75G>A
XR_930893.1:n.2884-75G>A
NM_001351295.1:c.2987-75G>A	NP_001338224.1:n.2987-75G>A
NM_001351296.1:c.2921-75G>A	NP_001338225.1:n.2921-75G>A
NM_001351297.1:c.2918-75G>A	NP_001338226.1:n.2918-75G>A
NR_147094.1:n.2995G>A
XM_017018197.2:c.2990-75G>A	XP_016873686.1:n.2990-75G>A
XM_017018199.1:c.2987-75G>A	XP_016873688.1:n.2987-75G>A
XM_017018201.2:c.2990-75G>A	XP_016873690.1:n.2990-75G>A
XM_017018202.1:c.1487-75G>A	XP_016873691.1:n.1487-75G>A
XM_017018204.1:c.878-75G>A	XP_016873693.1:n.878-75G>A
XM_024448668.1:c.1289-75G>A	XP_024304436.1:n.1289-75G>A
XR_001747945.2:n.3062-75G>A
XR_001747946.2:n.2993-75G>A
XR_002957189.1:n.3067G>A
NM_000352.6:c.2921-75G>A MANE Select	NP_000343.2:n.2921-75G>A
NM_001287174.2:c.2924-75G>A	NP_001274103.1:n.2924-75G>A
NM_001351295.2:c.2987-75G>A	NP_001338224.1:n.2987-75G>A
NM_001351296.2:c.2921-75G>A	NP_001338225.1:n.2921-75G>A
NM_001351297.2:c.2918-75G>A	NP_001338226.1:n.2918-75G>A
NR_147094.2:n.2995G>A
NM_001287174.3:c.2924-75G>A	NP_001274103.1:n.2924-75G>A