Canonical Allele Identifier: CA2612661791

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17406822-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406822G>A , CM000673.2:g.17406822G>A	GRCh38
NC_000011.9:g.17428369G>A , CM000673.1:g.17428369G>A	GRCh37
NC_000011.8:g.17384945G>A	NCBI36
NG_008867.1:g.75081C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2732-34C>T
ENST00000529967.6:n.1502-34C>T
ENST00000532220.2:n.895-34C>T
ENST00000642611.2:n.3232-34C>T
ENST00000645004.2:n.662-34C>T
ENST00000682051.1:n.3179-34C>T
ENST00000682110.1:n.3232-34C>T
ENST00000682140.1:c.3160-34C>T	ENSP00000507829.1:n.3160-34C>T
ENST00000682185.1:n.4468-34C>T
ENST00000682204.1:c.*1301-34C>T	ENSP00000507094.1:n.*1301-34C>T
ENST00000682215.1:n.3229-34C>T
ENST00000682288.1:c.*1594-34C>T	ENSP00000507506.1:n.*1594-34C>T
ENST00000682442.1:n.3418C>T
ENST00000682528.1:n.3309-34C>T
ENST00000682673.1:n.3176-34C>T
ENST00000682805.1:n.3229-34C>T
ENST00000682965.1:c.3160-34C>T	ENSP00000508229.1:n.3160-34C>T
ENST00000683093.1:n.3331-34C>T
ENST00000683136.1:c.3160-34C>T	ENSP00000507768.1:n.3160-34C>T
ENST00000683153.1:n.3388-34C>T
ENST00000683365.1:n.3334-34C>T
ENST00000683377.1:n.3232-34C>T
ENST00000683456.1:c.*300-34C>T	ENSP00000508318.1:n.*300-34C>T
ENST00000683522.1:n.3232-34C>T
ENST00000683562.1:c.*1332-34C>T	ENSP00000508265.1:n.*1332-34C>T
ENST00000683693.1:n.3309-34C>T
ENST00000683725.1:c.3163-34C>T	ENSP00000507496.1:n.3163-34C>T
ENST00000684010.1:n.3227-34C>T
ENST00000684157.1:n.3232-34C>T
ENST00000684253.1:n.3135-34C>T
ENST00000684288.1:c.*1335-34C>T	ENSP00000507143.1:n.*1335-34C>T
ENST00000684313.1:n.2664-34C>T
ENST00000684332.1:n.3305-34C>T
ENST00000684371.1:n.3338-34C>T
ENST00000684404.1:n.3275-34C>T
ENST00000684442.1:n.3232-34C>T
ENST00000684555.1:c.*1375-34C>T	ENSP00000507705.1:n.*1375-34C>T
ENST00000684571.1:c.3004-34C>T	ENSP00000506935.1:n.3004-34C>T
ENST00000684593.1:c.*2868-34C>T	ENSP00000507005.1:n.*2868-34C>T
ENST00000684711.1:c.*1559-34C>T	ENSP00000506841.1:n.*1559-34C>T
ENST00000302539.9:c.3166-34C>T	ENSP00000303960.4:n.3166-34C>T
ENST00000389817.8:c.3163-34C>T MANE Select	ENSP00000374467.4:n.3163-34C>T
ENST00000642271.1:c.3160-34C>T	ENSP00000493749.1:n.3160-34C>T
ENST00000642579.1:c.1247-34C>T
ENST00000642611.1:n.3117-34C>T
ENST00000642902.1:c.2945-34C>T
ENST00000643260.1:c.3163-34C>T	ENSP00000494450.1:n.3163-34C>T
ENST00000643562.1:c.*1139-34C>T	ENSP00000496124.1:n.*1139-34C>T
ENST00000643925.1:c.1287-34C>T
ENST00000644447.1:c.1519-34C>T	ENSP00000496282.1:n.1519-34C>T
ENST00000644484.1:c.*1418-34C>T	ENSP00000493558.1:n.*1418-34C>T
ENST00000644542.1:c.*2933C>T	ENSP00000495532.1:n.*2933C>T
ENST00000644675.1:c.*1335-34C>T	ENSP00000494567.1:n.*1335-34C>T
ENST00000644757.1:c.*1448-34C>T	ENSP00000495085.1:n.*1448-34C>T
ENST00000644772.1:c.3229-34C>T	ENSP00000494321.1:n.3229-34C>T
ENST00000645004.1:n.302-34C>T
ENST00000645076.1:c.2362-34C>T
ENST00000645417.1:c.329-34C>T
ENST00000645744.1:c.*1427-34C>T	ENSP00000494564.1:n.*1427-34C>T
ENST00000645760.1:c.3438-34C>T
ENST00000645884.1:c.*300-34C>T	ENSP00000495516.1:n.*300-34C>T
ENST00000646003.1:c.*1119-34C>T	ENSP00000495259.1:n.*1119-34C>T
ENST00000646207.1:c.*1630-34C>T	ENSP00000495025.1:n.*1630-34C>T
ENST00000646276.1:c.*1436-34C>T	ENSP00000496070.1:n.*1436-34C>T
ENST00000646592.1:c.2469-34C>T
ENST00000646902.1:c.3160-34C>T	ENSP00000494101.1:n.3160-34C>T
ENST00000646993.1:c.*1559-34C>T	ENSP00000493720.1:n.*1559-34C>T
ENST00000647013.1:c.3169-34C>T	ENSP00000496741.1:n.3169-34C>T
ENST00000647015.1:c.2914-34C>T	ENSP00000495389.1:n.2914-34C>T
ENST00000647086.1:c.*2893-34C>T	ENSP00000493677.1:n.*2893-34C>T
ENST00000647158.1:c.*1304-34C>T	ENSP00000495744.1:n.*1304-34C>T
ENST00000302539.8:c.3166-34C>T	ENSP00000303960.4:n.3166-34C>T
ENST00000389817.7:c.3163-34C>T	ENSP00000374467.3:n.3163-34C>T
ENST00000524561.1:n.295-34C>T
ENST00000526921.5:n.847-34C>T
ENST00000527905.5:c.*39-34C>T	ENSP00000431653.1:n.*39-34C>T
NM_000352.4:c.3163-34C>T	NP_000343.2:n.3163-34C>T
NM_001287174.1:c.3166-34C>T	NP_001274103.1:n.3166-34C>T
XM_011520331.1:c.3163-34C>T	XP_011518633.1:n.3163-34C>T
XM_011520332.1:c.3166-34C>T	XP_011518634.1:n.3166-34C>T
XM_011520333.1:c.1663-34C>T	XP_011518635.1:n.1663-34C>T
XR_930890.1:n.3229-34C>T
XR_930891.1:n.3229-34C>T
XR_930892.1:n.3129-34C>T
XR_930893.1:n.3126-34C>T
NM_001351295.1:c.3229-34C>T	NP_001338224.1:n.3229-34C>T
NM_001351296.1:c.3163-34C>T	NP_001338225.1:n.3163-34C>T
NM_001351297.1:c.3160-34C>T	NP_001338226.1:n.3160-34C>T
NR_147094.1:n.3312-34C>T
XM_017018197.2:c.3232-34C>T	XP_016873686.1:n.3232-34C>T
XM_017018199.1:c.3229-34C>T	XP_016873688.1:n.3229-34C>T
XM_017018201.2:c.3232-34C>T	XP_016873690.1:n.3232-34C>T
XM_017018202.1:c.1729-34C>T	XP_016873691.1:n.1729-34C>T
XM_017018204.1:c.1120-34C>T	XP_016873693.1:n.1120-34C>T
XM_024448668.1:c.1531-34C>T	XP_024304436.1:n.1531-34C>T
XR_001747945.2:n.3304-34C>T
XR_001747946.2:n.3235-34C>T
XR_002957189.1:n.3384-34C>T
NM_000352.6:c.3163-34C>T MANE Select	NP_000343.2:n.3163-34C>T
NM_001287174.2:c.3166-34C>T	NP_001274103.1:n.3166-34C>T
NM_001351295.2:c.3229-34C>T	NP_001338224.1:n.3229-34C>T
NM_001351296.2:c.3163-34C>T	NP_001338225.1:n.3163-34C>T
NM_001351297.2:c.3160-34C>T	NP_001338226.1:n.3160-34C>T
NR_147094.2:n.3312-34C>T
NM_001287174.3:c.3166-34C>T	NP_001274103.1:n.3166-34C>T