Canonical Allele Identifier: CA473298048

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17393754-G-A
• MyVariant Identifiers: chr11:g.17415301G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393754G>A , CM000673.2:g.17393754G>A	GRCh38
NC_000011.9:g.17415301G>A , CM000673.1:g.17415301G>A	GRCh37
NC_000011.8:g.17371877G>A	NCBI36
NG_008867.1:g.88149C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4152C>T
ENST00000526037.6:n.486C>T
ENST00000528374.2:c.1142C>T
ENST00000529967.6:n.2890C>T
ENST00000532220.2:n.3784C>T
ENST00000642611.2:n.5884C>T
ENST00000644057.2:n.1127C>T
ENST00000645004.2:n.2050C>T
ENST00000682051.1:n.4713C>T
ENST00000682110.1:n.4766C>T
ENST00000682140.1:c.*337C>T	ENSP00000507829.1:n.*337C>T
ENST00000682185.1:n.5856C>T
ENST00000682204.1:c.*2689C>T	ENSP00000507094.1:n.*2689C>T
ENST00000682215.1:n.5133C>T
ENST00000682288.1:c.*2982C>T	ENSP00000507506.1:n.*2982C>T
ENST00000682442.1:n.4986C>T
ENST00000682528.1:n.4843C>T
ENST00000682673.1:n.4710C>T
ENST00000682805.1:n.5171C>T
ENST00000682965.1:c.*973C>T	ENSP00000508229.1:n.*973C>T
ENST00000683093.1:n.5746C>T
ENST00000683136.1:c.4434C>T	ENSP00000507768.1:p.Asn1478=
ENST00000683153.1:n.4808C>T
ENST00000683365.1:n.4868C>T
ENST00000683377.1:n.4662C>T
ENST00000683456.1:c.*1688C>T	ENSP00000508318.1:n.*1688C>T
ENST00000683522.1:n.4848C>T
ENST00000683562.1:c.*2616C>T	ENSP00000508265.1:n.*2616C>T
ENST00000683693.1:n.6227C>T
ENST00000683725.1:c.*16C>T	ENSP00000507496.1:n.*16C>T
ENST00000684010.1:n.4761C>T
ENST00000684014.1:n.738C>T
ENST00000684157.1:n.5751C>T
ENST00000684253.1:n.4669C>T
ENST00000684288.1:c.*2723C>T	ENSP00000507143.1:n.*2723C>T
ENST00000684313.1:n.4198C>T
ENST00000684332.1:n.4839C>T
ENST00000684371.1:n.4872C>T
ENST00000684404.1:n.5794C>T
ENST00000684442.1:n.4990C>T
ENST00000684555.1:c.*2763C>T	ENSP00000507705.1:n.*2763C>T
ENST00000684571.1:c.4392C>T	ENSP00000506935.1:p.Asn1464=
ENST00000684593.1:c.*4256C>T	ENSP00000507005.1:n.*4256C>T
ENST00000684711.1:c.*2947C>T	ENSP00000506841.1:n.*2947C>T
ENST00000302539.9:c.4554C>T	ENSP00000303960.4:p.Asn1518=
ENST00000389817.8:c.4551C>T MANE Select	ENSP00000374467.4:p.Asn1517=
ENST00000642271.1:c.4548C>T	ENSP00000493749.1:p.Asn1516=
ENST00000642579.1:c.2605C>T
ENST00000642611.1:n.5769C>T
ENST00000642902.1:c.4333C>T
ENST00000643260.1:c.4551C>T	ENSP00000494450.1:p.Asn1517=
ENST00000643562.1:c.*2673C>T	ENSP00000496124.1:n.*2673C>T
ENST00000643925.1:c.3185+512C>T
ENST00000644057.1:n.710C>T
ENST00000644484.1:c.*3937C>T	ENSP00000493558.1:n.*3937C>T
ENST00000644675.1:c.*2723C>T	ENSP00000494567.1:n.*2723C>T
ENST00000644757.1:c.*3203-774C>T	ENSP00000495085.1:n.*3203-774C>T
ENST00000644772.1:c.4617C>T	ENSP00000494321.1:p.Asn1539=
ENST00000645004.1:n.2244C>T
ENST00000645076.1:c.3646C>T
ENST00000645417.1:c.1739C>T
ENST00000645744.1:c.*4236C>T	ENSP00000494564.1:n.*4236C>T
ENST00000645760.1:c.4972C>T
ENST00000645884.1:c.*1834C>T	ENSP00000495516.1:n.*1834C>T
ENST00000646003.1:c.*2573C>T	ENSP00000495259.1:n.*2573C>T
ENST00000646207.1:c.*3388C>T	ENSP00000495025.1:n.*3388C>T
ENST00000646276.1:c.*3955C>T	ENSP00000496070.1:n.*3955C>T
ENST00000646592.1:c.3857C>T
ENST00000646902.1:c.4518C>T	ENSP00000494101.1:p.Asn1506=
ENST00000646993.1:c.*2989C>T	ENSP00000493720.1:n.*2989C>T
ENST00000647015.1:c.4302C>T	ENSP00000495389.1:p.Asn1434=
ENST00000647086.1:c.*4137C>T	ENSP00000493677.1:n.*4137C>T
ENST00000647158.1:c.*2838C>T	ENSP00000495744.1:n.*2838C>T
ENST00000302539.8:c.4554C>T	ENSP00000303960.4:p.Asn1518=
ENST00000389817.7:c.4551C>T	ENSP00000374467.3:p.Asn1517=
ENST00000525022.1:n.446C>T
ENST00000526037.5:n.311C>T
ENST00000526168.5:c.339C>T
ENST00000531642.5:c.582C>T
NM_000352.4:c.4551C>T	NP_000343.2:p.Asn1517=
NM_001287174.1:c.4554C>T	NP_001274103.1:p.Asn1518=
XM_011520331.1:c.4551C>T	XP_011518633.1:p.Asn1517=
XM_011520333.1:c.3051C>T	XP_011518635.1:p.Asn1017=
XR_930890.1:n.4513C>T
NM_001351295.1:c.4617C>T	NP_001338224.1:p.Asn1539=
NM_001351296.1:c.4551C>T	NP_001338225.1:p.Asn1517=
NM_001351297.1:c.4548C>T	NP_001338226.1:p.Asn1516=
NR_147094.1:n.4846C>T
XM_017018197.2:c.4620C>T	XP_016873686.1:p.Asn1540=
XM_017018199.1:c.4617C>T	XP_016873688.1:p.Asn1539=
XM_017018202.1:c.3117C>T	XP_016873691.1:p.Asn1039=
XM_017018204.1:c.2508C>T	XP_016873693.1:p.Asn836=
XM_024448668.1:c.2919C>T	XP_024304436.1:p.Asn973=
XR_001747945.2:n.4588C>T
XR_001747946.2:n.4519C>T
XR_002957189.1:n.6302C>T
NM_000352.6:c.4551C>T MANE Select	NP_000343.2:p.Asn1517=
NM_001287174.2:c.4554C>T	NP_001274103.1:p.Asn1518=
NM_001351295.2:c.4617C>T	NP_001338224.1:p.Asn1539=
NM_001351296.2:c.4551C>T	NP_001338225.1:p.Asn1517=
NM_001351297.2:c.4548C>T	NP_001338226.1:p.Asn1516=
NR_147094.2:n.4846C>T
NM_001287174.3:c.4554C>T	NP_001274103.1:p.Asn1518=