Canonical Allele Identifier: CA379790857

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17397000-C-A
• MyVariant Identifiers: chr11:g.17418547C>A (hg19) ; chr11:g.17397000C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397000C>A , CM000673.2:g.17397000C>A	GRCh38
NC_000011.9:g.17418547C>A , CM000673.1:g.17418547C>A	GRCh37
NC_000011.8:g.17375123C>A	NCBI36
NG_008867.1:g.84903G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3636G>T
ENST00000528374.2:c.626G>T
ENST00000529967.6:n.2374G>T
ENST00000532220.2:n.2283G>T
ENST00000642611.2:n.4250G>T
ENST00000644057.2:n.478G>T
ENST00000645004.2:n.1534G>T
ENST00000682051.1:n.4197G>T
ENST00000682110.1:n.4250G>T
ENST00000682140.1:c.3985+193G>T	ENSP00000507829.1:n.3985+193G>T
ENST00000682185.1:n.5340G>T
ENST00000682204.1:c.*2173G>T	ENSP00000507094.1:n.*2173G>T
ENST00000682215.1:n.4617G>T
ENST00000682288.1:c.*2466G>T	ENSP00000507506.1:n.*2466G>T
ENST00000682442.1:n.4470G>T
ENST00000682528.1:n.4327G>T
ENST00000682673.1:n.4194G>T
ENST00000682805.1:n.4617G>T
ENST00000682965.1:c.*457G>T	ENSP00000508229.1:n.*457G>T
ENST00000683093.1:n.4349G>T
ENST00000683136.1:c.3918G>T	ENSP00000507768.1:p.Gln1306His
ENST00000683153.1:n.4292G>T
ENST00000683365.1:n.4352G>T
ENST00000683377.1:n.4250G>T
ENST00000683456.1:c.*1172G>T	ENSP00000508318.1:n.*1172G>T
ENST00000683522.1:n.4250G>T
ENST00000683562.1:c.*2204G>T	ENSP00000508265.1:n.*2204G>T
ENST00000683693.1:n.4697G>T
ENST00000683725.1:c.4035G>T	ENSP00000507496.1:p.Gln1345His
ENST00000684010.1:n.4245G>T
ENST00000684157.1:n.4250G>T
ENST00000684253.1:n.4153G>T
ENST00000684288.1:c.*2207G>T	ENSP00000507143.1:n.*2207G>T
ENST00000684313.1:n.3682G>T
ENST00000684332.1:n.4323G>T
ENST00000684371.1:n.4356G>T
ENST00000684404.1:n.4293G>T
ENST00000684442.1:n.4474G>T
ENST00000684555.1:c.*2247G>T	ENSP00000507705.1:n.*2247G>T
ENST00000684571.1:c.3876G>T	ENSP00000506935.1:p.Gln1292His
ENST00000684593.1:c.*3740G>T	ENSP00000507005.1:n.*3740G>T
ENST00000684711.1:c.*2431G>T	ENSP00000506841.1:n.*2431G>T
ENST00000302539.9:c.4038G>T	ENSP00000303960.4:p.Gln1346His
ENST00000389817.8:c.4035G>T MANE Select	ENSP00000374467.4:p.Gln1345His
ENST00000642271.1:c.4032G>T	ENSP00000493749.1:p.Gln1344His
ENST00000642579.1:c.2089G>T
ENST00000642611.1:n.4135G>T
ENST00000642902.1:c.3817G>T
ENST00000643260.1:c.4035G>T	ENSP00000494450.1:p.Gln1345His
ENST00000643562.1:c.*2157G>T	ENSP00000496124.1:n.*2157G>T
ENST00000643925.1:c.2675G>T
ENST00000644057.1:n.112G>T
ENST00000644484.1:c.*2436G>T	ENSP00000493558.1:n.*2436G>T
ENST00000644675.1:c.*2207G>T	ENSP00000494567.1:n.*2207G>T
ENST00000644757.1:c.*2466G>T	ENSP00000495085.1:n.*2466G>T
ENST00000644772.1:c.4101G>T	ENSP00000494321.1:p.Gln1367His
ENST00000645004.1:n.1690G>T
ENST00000645076.1:c.3234G>T
ENST00000645417.1:c.1223G>T
ENST00000645744.1:c.*2815G>T	ENSP00000494564.1:n.*2815G>T
ENST00000645760.1:c.4456G>T
ENST00000645884.1:c.*1318G>T	ENSP00000495516.1:n.*1318G>T
ENST00000646003.1:c.*2137G>T	ENSP00000495259.1:n.*2137G>T
ENST00000646207.1:c.*2872G>T	ENSP00000495025.1:n.*2872G>T
ENST00000646276.1:c.*2454G>T	ENSP00000496070.1:n.*2454G>T
ENST00000646592.1:c.3341G>T
ENST00000646902.1:c.4002G>T	ENSP00000494101.1:p.Gln1334His
ENST00000646993.1:c.*2577G>T	ENSP00000493720.1:n.*2577G>T
ENST00000647013.1:c.4041G>T	ENSP00000496741.1:n.4041G>T
ENST00000647015.1:c.3786G>T	ENSP00000495389.1:p.Gln1262His
ENST00000647086.1:c.*3621G>T	ENSP00000493677.1:n.*3621G>T
ENST00000647158.1:c.*2322G>T	ENSP00000495744.1:n.*2322G>T
ENST00000302539.8:c.4038G>T	ENSP00000303960.4:p.Gln1346His
ENST00000389817.7:c.4035G>T	ENSP00000374467.3:p.Gln1345His
ENST00000527905.5:c.*1057G>T	ENSP00000431653.1:n.*1057G>T
ENST00000528374.1:c.517G>T
ENST00000531137.1:n.600G>T
ENST00000531891.1:c.373G>T
ENST00000532220.1:n.509G>T
NM_000352.4:c.4035G>T	NP_000343.2:p.Gln1345His
NM_001287174.1:c.4038G>T	NP_001274103.1:p.Gln1346His
XM_011520331.1:c.4035G>T	XP_011518633.1:p.Gln1345His
XM_011520332.1:c.4038G>T	XP_011518634.1:p.Gln1346His
XM_011520333.1:c.2535G>T	XP_011518635.1:p.Gln845His
XR_930890.1:n.4101G>T
NM_001351295.1:c.4101G>T	NP_001338224.1:p.Gln1367His
NM_001351296.1:c.4035G>T	NP_001338225.1:p.Gln1345His
NM_001351297.1:c.4032G>T	NP_001338226.1:p.Gln1344His
NR_147094.1:n.4330G>T
XM_017018197.2:c.4104G>T	XP_016873686.1:p.Gln1368His
XM_017018199.1:c.4101G>T	XP_016873688.1:p.Gln1367His
XM_017018201.2:c.4104G>T	XP_016873690.1:p.Gln1368His
XM_017018202.1:c.2601G>T	XP_016873691.1:p.Gln867His
XM_017018204.1:c.1992G>T	XP_016873693.1:p.Gln664His
XM_024448668.1:c.2403G>T	XP_024304436.1:p.Gln801His
XR_001747945.2:n.4176G>T
XR_001747946.2:n.4107G>T
XR_002957189.1:n.4772G>T
NM_000352.6:c.4035G>T MANE Select	NP_000343.2:p.Gln1345His
NM_001287174.2:c.4038G>T	NP_001274103.1:p.Gln1346His
NM_001351295.2:c.4101G>T	NP_001338224.1:p.Gln1367His
NM_001351296.2:c.4035G>T	NP_001338225.1:p.Gln1345His
NM_001351297.2:c.4032G>T	NP_001338226.1:p.Gln1344His
NR_147094.2:n.4330G>T
NM_001287174.3:c.4038G>T	NP_001274103.1:p.Gln1346His