Canonical Allele Identifier: CA379780845

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17393029-C-A
• MyVariant Identifiers: chr11:g.17414576C>A (hg19) ; chr11:g.17393029C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393029C>A , CM000673.2:g.17393029C>A	GRCh38
NC_000011.9:g.17414576C>A , CM000673.1:g.17414576C>A	GRCh37
NC_000011.8:g.17371152C>A	NCBI36
NG_008867.1:g.88874G>T
NG_012446.1:g.631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4309G>T
ENST00000526037.6:n.643G>T
ENST00000528374.2:c.1299G>T
ENST00000529967.6:n.3047G>T
ENST00000532220.2:n.3941G>T
ENST00000642611.2:n.6041G>T
ENST00000644057.2:n.1284G>T
ENST00000645004.2:n.2207G>T
ENST00000682051.1:n.4870G>T
ENST00000682110.1:n.4923G>T
ENST00000682140.1:c.*494G>T	ENSP00000507829.1:n.*494G>T
ENST00000682185.1:n.6013G>T
ENST00000682204.1:c.*2846G>T	ENSP00000507094.1:n.*2846G>T
ENST00000682215.1:n.5290G>T
ENST00000682288.1:c.*3139G>T	ENSP00000507506.1:n.*3139G>T
ENST00000682442.1:n.5143G>T
ENST00000682528.1:n.5000G>T
ENST00000682673.1:n.4867G>T
ENST00000682805.1:n.5328G>T
ENST00000682965.1:c.*1130G>T	ENSP00000508229.1:n.*1130G>T
ENST00000683093.1:n.5903G>T
ENST00000683136.1:c.4591G>T	ENSP00000507768.1:p.Asp1531Tyr
ENST00000683153.1:n.4965G>T
ENST00000683365.1:n.5025G>T
ENST00000683377.1:n.4819G>T
ENST00000683456.1:c.*1845G>T	ENSP00000508318.1:n.*1845G>T
ENST00000683522.1:n.5005G>T
ENST00000683562.1:c.*2773G>T	ENSP00000508265.1:n.*2773G>T
ENST00000683693.1:n.6384G>T
ENST00000683725.1:c.*173G>T	ENSP00000507496.1:n.*173G>T
ENST00000684010.1:n.4918G>T
ENST00000684014.1:n.895G>T
ENST00000684157.1:n.5908G>T
ENST00000684253.1:n.4826G>T
ENST00000684288.1:c.*2880G>T	ENSP00000507143.1:n.*2880G>T
ENST00000684313.1:n.4355G>T
ENST00000684332.1:n.4996G>T
ENST00000684371.1:n.5029G>T
ENST00000684404.1:n.5951G>T
ENST00000684442.1:n.5147G>T
ENST00000684555.1:c.*2920G>T	ENSP00000507705.1:n.*2920G>T
ENST00000684571.1:c.4549G>T	ENSP00000506935.1:p.Asp1517Tyr
ENST00000684593.1:c.*4413G>T	ENSP00000507005.1:n.*4413G>T
ENST00000684711.1:c.*3104G>T	ENSP00000506841.1:n.*3104G>T
ENST00000302539.9:c.4711G>T	ENSP00000303960.4:p.Asp1571Tyr
ENST00000389817.8:c.4708G>T MANE Select	ENSP00000374467.4:p.Asp1570Tyr
ENST00000642271.1:c.4705G>T	ENSP00000493749.1:p.Asp1569Tyr
ENST00000642579.1:c.2762G>T
ENST00000642611.1:n.5926G>T
ENST00000642902.1:c.4490G>T
ENST00000643260.1:c.4708G>T	ENSP00000494450.1:p.Asp1570Tyr
ENST00000643562.1:c.*2830G>T	ENSP00000496124.1:n.*2830G>T
ENST00000643925.1:c.3285G>T
ENST00000644057.1:n.867G>T
ENST00000644484.1:c.*4094G>T	ENSP00000493558.1:n.*4094G>T
ENST00000644675.1:c.*2880G>T	ENSP00000494567.1:n.*2880G>T
ENST00000644757.1:c.*3203-49G>T	ENSP00000495085.1:n.*3203-49G>T
ENST00000644772.1:c.4774G>T	ENSP00000494321.1:p.Asp1592Tyr
ENST00000645004.1:n.2401G>T
ENST00000645076.1:c.3803G>T
ENST00000645760.1:c.5129G>T
ENST00000645884.1:c.*1991G>T	ENSP00000495516.1:n.*1991G>T
ENST00000646003.1:c.*2730G>T	ENSP00000495259.1:n.*2730G>T
ENST00000646207.1:c.*3545G>T	ENSP00000495025.1:n.*3545G>T
ENST00000646592.1:c.4014G>T
ENST00000646902.1:c.4675G>T	ENSP00000494101.1:p.Asp1559Tyr
ENST00000646993.1:c.*3146G>T	ENSP00000493720.1:n.*3146G>T
ENST00000647015.1:c.4459G>T	ENSP00000495389.1:p.Asp1487Tyr
ENST00000647086.1:c.*4294G>T	ENSP00000493677.1:n.*4294G>T
ENST00000302539.8:c.4711G>T	ENSP00000303960.4:p.Asp1571Tyr
ENST00000389817.7:c.4708G>T	ENSP00000374467.3:p.Asp1570Tyr
ENST00000526037.5:n.468G>T
ENST00000526168.5:c.496G>T
ENST00000531642.5:c.739G>T
NM_000352.4:c.4708G>T	NP_000343.2:p.Asp1570Tyr
NM_001287174.1:c.4711G>T	NP_001274103.1:p.Asp1571Tyr
XM_011520331.1:c.4708G>T	XP_011518633.1:p.Asp1570Tyr
XM_011520333.1:c.3208G>T	XP_011518635.1:p.Asp1070Tyr
XR_930890.1:n.4670G>T
NM_001351295.1:c.4774G>T	NP_001338224.1:p.Asp1592Tyr
NM_001351296.1:c.4708G>T	NP_001338225.1:p.Asp1570Tyr
NM_001351297.1:c.4705G>T	NP_001338226.1:p.Asp1569Tyr
NR_147094.1:n.5003G>T
XM_017018197.2:c.4777G>T	XP_016873686.1:p.Asp1593Tyr
XM_017018199.1:c.4774G>T	XP_016873688.1:p.Asp1592Tyr
XM_017018202.1:c.3274G>T	XP_016873691.1:p.Asp1092Tyr
XM_017018204.1:c.2665G>T	XP_016873693.1:p.Asp889Tyr
XM_024448668.1:c.3076G>T	XP_024304436.1:p.Asp1026Tyr
XR_001747945.2:n.4745G>T
XR_001747946.2:n.4676G>T
XR_002957189.1:n.6459G>T
NM_000352.6:c.4708G>T MANE Select	NP_000343.2:p.Asp1570Tyr
NM_001287174.2:c.4711G>T	NP_001274103.1:p.Asp1571Tyr
NM_001351295.2:c.4774G>T	NP_001338224.1:p.Asp1592Tyr
NM_001351296.2:c.4708G>T	NP_001338225.1:p.Asp1570Tyr
NM_001351297.2:c.4705G>T	NP_001338226.1:p.Asp1569Tyr
NR_147094.2:n.5003G>T
NM_001287174.3:c.4711G>T	NP_001274103.1:p.Asp1571Tyr