Canonical Allele Identifier: CA379782175

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415294G>C (hg19) ; chr11:g.17393747G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393747G>C , CM000673.2:g.17393747G>C	GRCh38
NC_000011.9:g.17415294G>C , CM000673.1:g.17415294G>C	GRCh37
NC_000011.8:g.17371870G>C	NCBI36
NG_008867.1:g.88156C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4159C>G
ENST00000526037.6:n.493C>G
ENST00000528374.2:c.1149C>G
ENST00000529967.6:n.2897C>G
ENST00000532220.2:n.3791C>G
ENST00000642611.2:n.5891C>G
ENST00000644057.2:n.1134C>G
ENST00000645004.2:n.2057C>G
ENST00000682051.1:n.4720C>G
ENST00000682110.1:n.4773C>G
ENST00000682140.1:c.*344C>G	ENSP00000507829.1:n.*344C>G
ENST00000682185.1:n.5863C>G
ENST00000682204.1:c.*2696C>G	ENSP00000507094.1:n.*2696C>G
ENST00000682215.1:n.5140C>G
ENST00000682288.1:c.*2989C>G	ENSP00000507506.1:n.*2989C>G
ENST00000682442.1:n.4993C>G
ENST00000682528.1:n.4850C>G
ENST00000682673.1:n.4717C>G
ENST00000682805.1:n.5178C>G
ENST00000682965.1:c.*980C>G	ENSP00000508229.1:n.*980C>G
ENST00000683093.1:n.5753C>G
ENST00000683136.1:c.4441C>G	ENSP00000507768.1:p.Gln1481Glu
ENST00000683153.1:n.4815C>G
ENST00000683365.1:n.4875C>G
ENST00000683377.1:n.4669C>G
ENST00000683456.1:c.*1695C>G	ENSP00000508318.1:n.*1695C>G
ENST00000683522.1:n.4855C>G
ENST00000683562.1:c.*2623C>G	ENSP00000508265.1:n.*2623C>G
ENST00000683693.1:n.6234C>G
ENST00000683725.1:c.*23C>G	ENSP00000507496.1:n.*23C>G
ENST00000684010.1:n.4768C>G
ENST00000684014.1:n.745C>G
ENST00000684157.1:n.5758C>G
ENST00000684253.1:n.4676C>G
ENST00000684288.1:c.*2730C>G	ENSP00000507143.1:n.*2730C>G
ENST00000684313.1:n.4205C>G
ENST00000684332.1:n.4846C>G
ENST00000684371.1:n.4879C>G
ENST00000684404.1:n.5801C>G
ENST00000684442.1:n.4997C>G
ENST00000684555.1:c.*2770C>G	ENSP00000507705.1:n.*2770C>G
ENST00000684571.1:c.4399C>G	ENSP00000506935.1:p.Gln1467Glu
ENST00000684593.1:c.*4263C>G	ENSP00000507005.1:n.*4263C>G
ENST00000684711.1:c.*2954C>G	ENSP00000506841.1:n.*2954C>G
ENST00000302539.9:c.4561C>G	ENSP00000303960.4:p.Gln1521Glu
ENST00000389817.8:c.4558C>G MANE Select	ENSP00000374467.4:p.Gln1520Glu
ENST00000642271.1:c.4555C>G	ENSP00000493749.1:p.Gln1519Glu
ENST00000642579.1:c.2612C>G
ENST00000642611.1:n.5776C>G
ENST00000642902.1:c.4340C>G
ENST00000643260.1:c.4558C>G	ENSP00000494450.1:p.Gln1520Glu
ENST00000643562.1:c.*2680C>G	ENSP00000496124.1:n.*2680C>G
ENST00000643925.1:c.3185+519C>G
ENST00000644057.1:n.717C>G
ENST00000644484.1:c.*3944C>G	ENSP00000493558.1:n.*3944C>G
ENST00000644675.1:c.*2730C>G	ENSP00000494567.1:n.*2730C>G
ENST00000644757.1:c.*3203-767C>G	ENSP00000495085.1:n.*3203-767C>G
ENST00000644772.1:c.4624C>G	ENSP00000494321.1:p.Gln1542Glu
ENST00000645004.1:n.2251C>G
ENST00000645076.1:c.3653C>G
ENST00000645417.1:c.1746C>G
ENST00000645744.1:c.*4243C>G	ENSP00000494564.1:n.*4243C>G
ENST00000645760.1:c.4979C>G
ENST00000645884.1:c.*1841C>G	ENSP00000495516.1:n.*1841C>G
ENST00000646003.1:c.*2580C>G	ENSP00000495259.1:n.*2580C>G
ENST00000646207.1:c.*3395C>G	ENSP00000495025.1:n.*3395C>G
ENST00000646276.1:c.*3962C>G	ENSP00000496070.1:n.*3962C>G
ENST00000646592.1:c.3864C>G
ENST00000646902.1:c.4525C>G	ENSP00000494101.1:p.Gln1509Glu
ENST00000646993.1:c.*2996C>G	ENSP00000493720.1:n.*2996C>G
ENST00000647015.1:c.4309C>G	ENSP00000495389.1:p.Gln1437Glu
ENST00000647086.1:c.*4144C>G	ENSP00000493677.1:n.*4144C>G
ENST00000647158.1:c.*2845C>G	ENSP00000495744.1:n.*2845C>G
ENST00000302539.8:c.4561C>G	ENSP00000303960.4:p.Gln1521Glu
ENST00000389817.7:c.4558C>G	ENSP00000374467.3:p.Gln1520Glu
ENST00000525022.1:n.453C>G
ENST00000526037.5:n.318C>G
ENST00000526168.5:c.346C>G
ENST00000531642.5:c.589C>G
NM_000352.4:c.4558C>G	NP_000343.2:p.Gln1520Glu
NM_001287174.1:c.4561C>G	NP_001274103.1:p.Gln1521Glu
XM_011520331.1:c.4558C>G	XP_011518633.1:p.Gln1520Glu
XM_011520333.1:c.3058C>G	XP_011518635.1:p.Gln1020Glu
XR_930890.1:n.4520C>G
NM_001351295.1:c.4624C>G	NP_001338224.1:p.Gln1542Glu
NM_001351296.1:c.4558C>G	NP_001338225.1:p.Gln1520Glu
NM_001351297.1:c.4555C>G	NP_001338226.1:p.Gln1519Glu
NR_147094.1:n.4853C>G
XM_017018197.2:c.4627C>G	XP_016873686.1:p.Gln1543Glu
XM_017018199.1:c.4624C>G	XP_016873688.1:p.Gln1542Glu
XM_017018202.1:c.3124C>G	XP_016873691.1:p.Gln1042Glu
XM_017018204.1:c.2515C>G	XP_016873693.1:p.Gln839Glu
XM_024448668.1:c.2926C>G	XP_024304436.1:p.Gln976Glu
XR_001747945.2:n.4595C>G
XR_001747946.2:n.4526C>G
XR_002957189.1:n.6309C>G
NM_000352.6:c.4558C>G MANE Select	NP_000343.2:p.Gln1520Glu
NM_001287174.2:c.4561C>G	NP_001274103.1:p.Gln1521Glu
NM_001351295.2:c.4624C>G	NP_001338224.1:p.Gln1542Glu
NM_001351296.2:c.4558C>G	NP_001338225.1:p.Gln1520Glu
NM_001351297.2:c.4555C>G	NP_001338226.1:p.Gln1519Glu
NR_147094.2:n.4853C>G
NM_001287174.3:c.4561C>G	NP_001274103.1:p.Gln1521Glu