Canonical Allele Identifier: CA473298273

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 989955
• ClinVar RCV Id: RCV001277863 ; RCV002245919 ; RCV002245920
• dbSNP Id: rs1953885229
• MyVariant Identifiers: chr11:g.17417261G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395714G>A , CM000673.2:g.17395714G>A	GRCh38
NC_000011.9:g.17417261G>A , CM000673.1:g.17417261G>A	GRCh37
NC_000011.8:g.17373837G>A	NCBI36
NG_008867.1:g.86189C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3804C>T
ENST00000528374.2:c.794C>T
ENST00000529967.6:n.2542C>T
ENST00000532220.2:n.3436C>T
ENST00000642611.2:n.5536C>T
ENST00000644057.2:n.779C>T
ENST00000645004.2:n.1702C>T
ENST00000682051.1:n.4365C>T
ENST00000682110.1:n.4418C>T
ENST00000682140.1:c.4069C>T	ENSP00000507829.1:p.His1357Tyr
ENST00000682185.1:n.5508C>T
ENST00000682204.1:c.*2341C>T	ENSP00000507094.1:n.*2341C>T
ENST00000682215.1:n.4785C>T
ENST00000682288.1:c.*2634C>T	ENSP00000507506.1:n.*2634C>T
ENST00000682442.1:n.4638C>T
ENST00000682528.1:n.4495C>T
ENST00000682673.1:n.4362C>T
ENST00000682805.1:n.4823C>T
ENST00000682965.1:c.*625C>T	ENSP00000508229.1:n.*625C>T
ENST00000683093.1:n.5502C>T
ENST00000683136.1:c.4086C>T	ENSP00000507768.1:p.His1362=
ENST00000683153.1:n.4460C>T
ENST00000683365.1:n.4520C>T
ENST00000683377.1:n.4418C>T
ENST00000683456.1:c.*1340C>T	ENSP00000508318.1:n.*1340C>T
ENST00000683522.1:n.4418C>T
ENST00000683562.1:c.*2372C>T	ENSP00000508265.1:n.*2372C>T
ENST00000683693.1:n.5983C>T
ENST00000683725.1:c.4203C>T	ENSP00000507496.1:p.His1401=
ENST00000684010.1:n.4413C>T
ENST00000684157.1:n.5403C>T
ENST00000684253.1:n.4321C>T
ENST00000684288.1:c.*2375C>T	ENSP00000507143.1:n.*2375C>T
ENST00000684313.1:n.3850C>T
ENST00000684332.1:n.4491C>T
ENST00000684371.1:n.4524C>T
ENST00000684404.1:n.5446C>T
ENST00000684442.1:n.4642C>T
ENST00000684555.1:c.*2415C>T	ENSP00000507705.1:n.*2415C>T
ENST00000684571.1:c.4044C>T	ENSP00000506935.1:p.His1348=
ENST00000684593.1:c.*3908C>T	ENSP00000507005.1:n.*3908C>T
ENST00000684711.1:c.*2599C>T	ENSP00000506841.1:n.*2599C>T
ENST00000302539.9:c.4206C>T	ENSP00000303960.4:p.His1402=
ENST00000389817.8:c.4203C>T MANE Select	ENSP00000374467.4:p.His1401=
ENST00000642271.1:c.4200C>T	ENSP00000493749.1:p.His1400=
ENST00000642579.1:c.2257C>T
ENST00000642611.1:n.5421C>T
ENST00000642902.1:c.3985C>T
ENST00000643260.1:c.4203C>T	ENSP00000494450.1:p.His1401=
ENST00000643562.1:c.*2325C>T	ENSP00000496124.1:n.*2325C>T
ENST00000643925.1:c.2843C>T
ENST00000644057.1:n.280C>T
ENST00000644484.1:c.*3589C>T	ENSP00000493558.1:n.*3589C>T
ENST00000644675.1:c.*2375C>T	ENSP00000494567.1:n.*2375C>T
ENST00000644757.1:c.*3202+550C>T	ENSP00000495085.1:n.*3202+550C>T
ENST00000644772.1:c.4269C>T	ENSP00000494321.1:p.His1423=
ENST00000645004.1:n.1896C>T
ENST00000645076.1:c.3402C>T
ENST00000645417.1:c.1391C>T
ENST00000645744.1:c.*3964-76C>T	ENSP00000494564.1:n.*3964-76C>T
ENST00000645760.1:c.4624C>T
ENST00000645884.1:c.*1486C>T	ENSP00000495516.1:n.*1486C>T
ENST00000646003.1:c.*2301-76C>T	ENSP00000495259.1:n.*2301-76C>T
ENST00000646207.1:c.*3040C>T	ENSP00000495025.1:n.*3040C>T
ENST00000646276.1:c.*3607C>T	ENSP00000496070.1:n.*3607C>T
ENST00000646592.1:c.3509C>T
ENST00000646902.1:c.4170C>T	ENSP00000494101.1:p.His1390=
ENST00000646993.1:c.*2745C>T	ENSP00000493720.1:n.*2745C>T
ENST00000647013.1:c.4209C>T	ENSP00000496741.1:n.4209C>T
ENST00000647015.1:c.3954C>T	ENSP00000495389.1:p.His1318=
ENST00000647086.1:c.*3789C>T	ENSP00000493677.1:n.*3789C>T
ENST00000647158.1:c.*2490C>T	ENSP00000495744.1:n.*2490C>T
ENST00000302539.8:c.4206C>T	ENSP00000303960.4:p.His1402=
ENST00000389817.7:c.4203C>T	ENSP00000374467.3:p.His1401=
ENST00000525022.1:n.202C>T
ENST00000526037.5:n.67C>T
ENST00000526168.5:c.67-76C>T
ENST00000531642.5:c.39C>T
NM_000352.4:c.4203C>T	NP_000343.2:p.His1401=
NM_001287174.1:c.4206C>T	NP_001274103.1:p.His1402=
XM_011520331.1:c.4203C>T	XP_011518633.1:p.His1401=
XM_011520332.1:c.4206C>T	XP_011518634.1:p.His1402=
XM_011520333.1:c.2703C>T	XP_011518635.1:p.His901=
XR_930890.1:n.4269C>T
NM_001351295.1:c.4269C>T	NP_001338224.1:p.His1423=
NM_001351296.1:c.4203C>T	NP_001338225.1:p.His1401=
NM_001351297.1:c.4200C>T	NP_001338226.1:p.His1400=
NR_147094.1:n.4498C>T
XM_017018197.2:c.4272C>T	XP_016873686.1:p.His1424=
XM_017018199.1:c.4269C>T	XP_016873688.1:p.His1423=
XM_017018201.2:c.4272C>T	XP_016873690.1:p.His1424=
XM_017018202.1:c.2769C>T	XP_016873691.1:p.His923=
XM_017018204.1:c.2160C>T	XP_016873693.1:p.His720=
XM_024448668.1:c.2571C>T	XP_024304436.1:p.His857=
XR_001747945.2:n.4344C>T
XR_001747946.2:n.4275C>T
XR_002957189.1:n.6058C>T
NM_000352.6:c.4203C>T MANE Select	NP_000343.2:p.His1401=
NM_001287174.2:c.4206C>T	NP_001274103.1:p.His1402=
NM_001351295.2:c.4269C>T	NP_001338224.1:p.His1423=
NM_001351296.2:c.4203C>T	NP_001338225.1:p.His1401=
NM_001351297.2:c.4200C>T	NP_001338226.1:p.His1400=
NR_147094.2:n.4498C>T
NM_001287174.3:c.4206C>T	NP_001274103.1:p.His1402=