Canonical Allele Identifier: CA379803279

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17406946-T-A
• MyVariant Identifiers: chr11:g.17428493T>A (hg19) ; chr11:g.17406946T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406946T>A , CM000673.2:g.17406946T>A	GRCh38
NC_000011.9:g.17428493T>A , CM000673.1:g.17428493T>A	GRCh37
NC_000011.8:g.17385069T>A	NCBI36
NG_008867.1:g.74957A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2673A>T
ENST00000529967.6:n.1443A>T
ENST00000532220.2:n.836A>T
ENST00000642611.2:n.3173A>T
ENST00000645004.2:n.603A>T
ENST00000682051.1:n.3120A>T
ENST00000682110.1:n.3173A>T
ENST00000682140.1:c.3101A>T	ENSP00000507829.1:p.Lys1034Met
ENST00000682185.1:n.4409A>T
ENST00000682204.1:c.*1242A>T	ENSP00000507094.1:n.*1242A>T
ENST00000682215.1:n.3170A>T
ENST00000682288.1:c.*1535A>T	ENSP00000507506.1:n.*1535A>T
ENST00000682442.1:n.3294A>T
ENST00000682528.1:n.3250A>T
ENST00000682673.1:n.3117A>T
ENST00000682805.1:n.3170A>T
ENST00000682965.1:c.3101A>T	ENSP00000508229.1:p.Lys1034Met
ENST00000683093.1:n.3272A>T
ENST00000683136.1:c.3101A>T	ENSP00000507768.1:p.Lys1034Met
ENST00000683153.1:n.3329A>T
ENST00000683365.1:n.3275A>T
ENST00000683377.1:n.3173A>T
ENST00000683456.1:c.*241A>T	ENSP00000508318.1:n.*241A>T
ENST00000683522.1:n.3173A>T
ENST00000683562.1:c.*1273A>T	ENSP00000508265.1:n.*1273A>T
ENST00000683693.1:n.3250A>T
ENST00000683725.1:c.3104A>T	ENSP00000507496.1:p.Lys1035Met
ENST00000684010.1:n.3168A>T
ENST00000684157.1:n.3173A>T
ENST00000684253.1:n.3076A>T
ENST00000684288.1:c.*1276A>T	ENSP00000507143.1:n.*1276A>T
ENST00000684313.1:n.2605A>T
ENST00000684332.1:n.3246A>T
ENST00000684371.1:n.3279A>T
ENST00000684404.1:n.3216A>T
ENST00000684442.1:n.3173A>T
ENST00000684555.1:c.*1316A>T	ENSP00000507705.1:n.*1316A>T
ENST00000684571.1:c.2945A>T	ENSP00000506935.1:p.Lys982Met
ENST00000684593.1:c.*2809A>T	ENSP00000507005.1:n.*2809A>T
ENST00000684711.1:c.*1500A>T	ENSP00000506841.1:n.*1500A>T
ENST00000302539.9:c.3107A>T	ENSP00000303960.4:p.Lys1036Met
ENST00000389817.8:c.3104A>T MANE Select	ENSP00000374467.4:p.Lys1035Met
ENST00000642271.1:c.3101A>T	ENSP00000493749.1:p.Lys1034Met
ENST00000642579.1:c.1188A>T
ENST00000642611.1:n.3058A>T
ENST00000642902.1:c.2886A>T
ENST00000643260.1:c.3104A>T	ENSP00000494450.1:p.Lys1035Met
ENST00000643562.1:c.*1080A>T	ENSP00000496124.1:n.*1080A>T
ENST00000643925.1:c.1228A>T
ENST00000644447.1:c.1460A>T	ENSP00000496282.1:p.Lys487Met
ENST00000644484.1:c.*1359A>T	ENSP00000493558.1:n.*1359A>T
ENST00000644542.1:c.*2809A>T	ENSP00000495532.1:n.*2809A>T
ENST00000644675.1:c.*1276A>T	ENSP00000494567.1:n.*1276A>T
ENST00000644757.1:c.*1389A>T	ENSP00000495085.1:n.*1389A>T
ENST00000644772.1:c.3170A>T	ENSP00000494321.1:p.Lys1057Met
ENST00000645004.1:n.243A>T
ENST00000645076.1:c.2303A>T
ENST00000645417.1:c.270A>T
ENST00000645744.1:c.*1368A>T	ENSP00000494564.1:n.*1368A>T
ENST00000645760.1:c.3379A>T
ENST00000645884.1:c.*241A>T	ENSP00000495516.1:n.*241A>T
ENST00000646003.1:c.*1060A>T	ENSP00000495259.1:n.*1060A>T
ENST00000646207.1:c.*1571A>T	ENSP00000495025.1:n.*1571A>T
ENST00000646276.1:c.*1377A>T	ENSP00000496070.1:n.*1377A>T
ENST00000646592.1:c.2410A>T
ENST00000646902.1:c.3101A>T	ENSP00000494101.1:p.Lys1034Met
ENST00000646993.1:c.*1500A>T	ENSP00000493720.1:n.*1500A>T
ENST00000647013.1:c.3110A>T	ENSP00000496741.1:n.3110A>T
ENST00000647015.1:c.2855A>T	ENSP00000495389.1:p.Lys952Met
ENST00000647086.1:c.*2834A>T	ENSP00000493677.1:n.*2834A>T
ENST00000647158.1:c.*1245A>T	ENSP00000495744.1:n.*1245A>T
ENST00000302539.8:c.3107A>T	ENSP00000303960.4:p.Lys1036Met
ENST00000389817.7:c.3104A>T	ENSP00000374467.3:p.Lys1035Met
ENST00000524561.1:n.236A>T
ENST00000526921.5:n.788A>T
ENST00000527905.5:c.2974A>T	ENSP00000431653.1:p.Ser992Cys
ENST00000529967.5:n.773A>T
NM_000352.4:c.3104A>T	NP_000343.2:p.Lys1035Met
NM_001287174.1:c.3107A>T	NP_001274103.1:p.Lys1036Met
XM_011520331.1:c.3104A>T	XP_011518633.1:p.Lys1035Met
XM_011520332.1:c.3107A>T	XP_011518634.1:p.Lys1036Met
XM_011520333.1:c.1604A>T	XP_011518635.1:p.Lys535Met
XR_930890.1:n.3170A>T
XR_930891.1:n.3170A>T
XR_930892.1:n.3070A>T
XR_930893.1:n.3067A>T
NM_001351295.1:c.3170A>T	NP_001338224.1:p.Lys1057Met
NM_001351296.1:c.3104A>T	NP_001338225.1:p.Lys1035Met
NM_001351297.1:c.3101A>T	NP_001338226.1:p.Lys1034Met
NR_147094.1:n.3253A>T
XM_017018197.2:c.3173A>T	XP_016873686.1:p.Lys1058Met
XM_017018199.1:c.3170A>T	XP_016873688.1:p.Lys1057Met
XM_017018201.2:c.3173A>T	XP_016873690.1:p.Lys1058Met
XM_017018202.1:c.1670A>T	XP_016873691.1:p.Lys557Met
XM_017018204.1:c.1061A>T	XP_016873693.1:p.Lys354Met
XM_024448668.1:c.1472A>T	XP_024304436.1:p.Lys491Met
XR_001747945.2:n.3245A>T
XR_001747946.2:n.3176A>T
XR_002957189.1:n.3325A>T
NM_000352.6:c.3104A>T MANE Select	NP_000343.2:p.Lys1035Met
NM_001287174.2:c.3107A>T	NP_001274103.1:p.Lys1036Met
NM_001351295.2:c.3170A>T	NP_001338224.1:p.Lys1057Met
NM_001351296.2:c.3104A>T	NP_001338225.1:p.Lys1035Met
NM_001351297.2:c.3101A>T	NP_001338226.1:p.Lys1034Met
NR_147094.2:n.3253A>T
NM_001287174.3:c.3107A>T	NP_001274103.1:p.Lys1036Met