Canonical Allele Identifier: CA379797948

Gene: ABCC8

Linked Data

• dbSNP Id: rs1368396077
• gnomAD v2: 11-17426120-C-A
• gnomAD v3: 11-17404573-C-A
• gnomAD v4: 11-17404573-C-A
• MyVariant Identifiers: chr11:g.17426120C>A (hg19) ; chr11:g.17404573C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404573C>A , CM000673.2:g.17404573C>A	GRCh38
NC_000011.9:g.17426120C>A , CM000673.1:g.17426120C>A	GRCh37
NC_000011.8:g.17382696C>A	NCBI36
NG_008867.1:g.77330G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3065G>T
ENST00000528374.2:c.75G>T
ENST00000529967.6:n.1835G>T
ENST00000532220.2:n.1228G>T
ENST00000642611.2:n.3565G>T
ENST00000645004.2:n.995G>T
ENST00000682051.1:n.3512G>T
ENST00000682110.1:n.3565G>T
ENST00000682140.1:c.3493G>T	ENSP00000507829.1:p.Ala1165Ser
ENST00000682185.1:n.4801G>T
ENST00000682204.1:c.*1634G>T	ENSP00000507094.1:n.*1634G>T
ENST00000682215.1:n.3562G>T
ENST00000682288.1:c.*1927G>T	ENSP00000507506.1:n.*1927G>T
ENST00000682442.1:n.3785G>T
ENST00000682528.1:n.3642G>T
ENST00000682673.1:n.3509G>T
ENST00000682805.1:n.3562G>T
ENST00000682965.1:c.3396+921G>T	ENSP00000508229.1:n.3396+921G>T
ENST00000683093.1:n.3664G>T
ENST00000683136.1:c.3493G>T	ENSP00000507768.1:p.Ala1165Ser
ENST00000683153.1:n.3721G>T
ENST00000683365.1:n.3667G>T
ENST00000683377.1:n.3565G>T
ENST00000683456.1:c.*633G>T	ENSP00000508318.1:n.*633G>T
ENST00000683522.1:n.3565G>T
ENST00000683562.1:c.*1665G>T	ENSP00000508265.1:n.*1665G>T
ENST00000683693.1:n.3642G>T
ENST00000683725.1:c.3496G>T	ENSP00000507496.1:p.Ala1166Ser
ENST00000684010.1:n.3560G>T
ENST00000684157.1:n.3565G>T
ENST00000684253.1:n.3468G>T
ENST00000684288.1:c.*1668G>T	ENSP00000507143.1:n.*1668G>T
ENST00000684313.1:n.2997G>T
ENST00000684332.1:n.3638G>T
ENST00000684371.1:n.3671G>T
ENST00000684404.1:n.3608G>T
ENST00000684442.1:n.3565G>T
ENST00000684555.1:c.*1708G>T	ENSP00000507705.1:n.*1708G>T
ENST00000684571.1:c.3337G>T	ENSP00000506935.1:p.Ala1113Ser
ENST00000684593.1:c.*3201G>T	ENSP00000507005.1:n.*3201G>T
ENST00000684711.1:c.*1892G>T	ENSP00000506841.1:n.*1892G>T
ENST00000302539.9:c.3499G>T	ENSP00000303960.4:p.Ala1167Ser
ENST00000389817.8:c.3496G>T MANE Select	ENSP00000374467.4:p.Ala1166Ser
ENST00000642271.1:c.3493G>T	ENSP00000493749.1:p.Ala1165Ser
ENST00000642579.1:c.1580G>T
ENST00000642611.1:n.3450G>T
ENST00000642902.1:c.3278G>T
ENST00000643260.1:c.3496G>T	ENSP00000494450.1:p.Ala1166Ser
ENST00000643562.1:c.*1472G>T	ENSP00000496124.1:n.*1472G>T
ENST00000643925.1:c.1620G>T
ENST00000644447.1:c.1852G>T	ENSP00000496282.1:p.Ala618Ser
ENST00000644484.1:c.*1751G>T	ENSP00000493558.1:n.*1751G>T
ENST00000644675.1:c.*1668G>T	ENSP00000494567.1:n.*1668G>T
ENST00000644757.1:c.*1781G>T	ENSP00000495085.1:n.*1781G>T
ENST00000644772.1:c.3562G>T	ENSP00000494321.1:p.Ala1188Ser
ENST00000645004.1:n.635G>T
ENST00000645076.1:c.2695G>T
ENST00000645417.1:c.662G>T
ENST00000645744.1:c.*1760G>T	ENSP00000494564.1:n.*1760G>T
ENST00000645760.1:c.3771G>T
ENST00000645884.1:c.*633G>T	ENSP00000495516.1:n.*633G>T
ENST00000646003.1:c.*1452G>T	ENSP00000495259.1:n.*1452G>T
ENST00000646207.1:c.*1963G>T	ENSP00000495025.1:n.*1963G>T
ENST00000646276.1:c.*1769G>T	ENSP00000496070.1:n.*1769G>T
ENST00000646592.1:c.2802G>T
ENST00000646902.1:c.3493G>T	ENSP00000494101.1:p.Ala1165Ser
ENST00000646993.1:c.*1892G>T	ENSP00000493720.1:n.*1892G>T
ENST00000647013.1:c.3502G>T	ENSP00000496741.1:n.3502G>T
ENST00000647015.1:c.3247G>T	ENSP00000495389.1:p.Ala1083Ser
ENST00000647086.1:c.*3226G>T	ENSP00000493677.1:n.*3226G>T
ENST00000647158.1:c.*1637G>T	ENSP00000495744.1:n.*1637G>T
ENST00000302539.8:c.3499G>T	ENSP00000303960.4:p.Ala1167Ser
ENST00000389817.7:c.3496G>T	ENSP00000374467.3:p.Ala1166Ser
ENST00000524561.1:n.628G>T
ENST00000527905.5:c.*372G>T	ENSP00000431653.1:n.*372G>T
NM_000352.4:c.3496G>T	NP_000343.2:p.Ala1166Ser
NM_001287174.1:c.3499G>T	NP_001274103.1:p.Ala1167Ser
XM_011520331.1:c.3496G>T	XP_011518633.1:p.Ala1166Ser
XM_011520332.1:c.3499G>T	XP_011518634.1:p.Ala1167Ser
XM_011520333.1:c.1996G>T	XP_011518635.1:p.Ala666Ser
XR_930890.1:n.3562G>T
XR_930892.1:n.3462G>T
XR_930893.1:n.3459G>T
NM_001351295.1:c.3562G>T	NP_001338224.1:p.Ala1188Ser
NM_001351296.1:c.3496G>T	NP_001338225.1:p.Ala1166Ser
NM_001351297.1:c.3493G>T	NP_001338226.1:p.Ala1165Ser
NR_147094.1:n.3645G>T
XM_017018197.2:c.3565G>T	XP_016873686.1:p.Ala1189Ser
XM_017018199.1:c.3562G>T	XP_016873688.1:p.Ala1188Ser
XM_017018201.2:c.3565G>T	XP_016873690.1:p.Ala1189Ser
XM_017018202.1:c.2062G>T	XP_016873691.1:p.Ala688Ser
XM_017018204.1:c.1453G>T	XP_016873693.1:p.Ala485Ser
XM_024448668.1:c.1864G>T	XP_024304436.1:p.Ala622Ser
XR_001747945.2:n.3637G>T
XR_001747946.2:n.3568G>T
XR_002957189.1:n.3717G>T
NM_000352.6:c.3496G>T MANE Select	NP_000343.2:p.Ala1166Ser
NM_001287174.2:c.3499G>T	NP_001274103.1:p.Ala1167Ser
NM_001351295.2:c.3562G>T	NP_001338224.1:p.Ala1188Ser
NM_001351296.2:c.3496G>T	NP_001338225.1:p.Ala1166Ser
NM_001351297.2:c.3493G>T	NP_001338226.1:p.Ala1165Ser
NR_147094.2:n.3645G>T
NM_001287174.3:c.3499G>T	NP_001274103.1:p.Ala1167Ser