Canonical Allele Identifier: CA379775994

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17482064C>G (hg19) ; chr11:g.17460517C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17460517C>G , CM000673.2:g.17460517C>G	GRCh38
NC_000011.9:g.17482064C>G , CM000673.1:g.17482064C>G	GRCh37
NC_000011.8:g.17438640C>G	NCBI36
NG_008867.1:g.21386G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.648+2921G>C
ENST00000526002.2:n.995G>C
ENST00000528202.6:n.1048G>C
ENST00000642611.2:n.1048G>C
ENST00000682051.1:n.995G>C
ENST00000682091.1:n.1957G>C
ENST00000682110.1:n.1048G>C
ENST00000682140.1:c.979G>C	ENSP00000507829.1:p.Gly327Arg
ENST00000682199.1:n.1048G>C
ENST00000682204.1:c.979G>C	ENSP00000507094.1:p.Gly327Arg
ENST00000682215.1:n.1048G>C
ENST00000682288.1:c.979G>C	ENSP00000507506.1:p.Gly327Arg
ENST00000682442.1:n.1082G>C
ENST00000682528.1:n.1048G>C
ENST00000682673.1:n.995G>C
ENST00000682805.1:n.1048G>C
ENST00000682863.1:n.1048G>C
ENST00000682965.1:c.979G>C	ENSP00000508229.1:p.Gly327Arg
ENST00000683093.1:n.1048G>C
ENST00000683136.1:c.979G>C	ENSP00000507768.1:p.Gly327Arg
ENST00000683153.1:n.1048G>C
ENST00000683253.1:n.1962G>C
ENST00000683365.1:n.1048G>C
ENST00000683377.1:n.1048G>C
ENST00000683456.1:c.979G>C	ENSP00000508318.1:p.Gly327Arg
ENST00000683522.1:n.1048G>C
ENST00000683531.1:n.1051G>C
ENST00000683562.1:c.982G>C	ENSP00000508265.1:p.Gly328Arg
ENST00000683693.1:n.1048G>C
ENST00000683725.1:c.982G>C	ENSP00000507496.1:p.Gly328Arg
ENST00000683808.1:n.318G>C
ENST00000684010.1:n.1048G>C
ENST00000684157.1:n.1048G>C
ENST00000684221.1:n.1818G>C
ENST00000684253.1:n.1100G>C
ENST00000684288.1:c.982G>C	ENSP00000507143.1:p.Gly328Arg
ENST00000684313.1:n.1075G>C
ENST00000684332.1:n.1048G>C
ENST00000684371.1:n.995G>C
ENST00000684404.1:n.1048G>C
ENST00000684442.1:n.1048G>C
ENST00000684555.1:c.982G>C	ENSP00000507705.1:p.Gly328Arg
ENST00000684571.1:c.979G>C	ENSP00000506935.1:p.Gly327Arg
ENST00000684593.1:c.*687G>C	ENSP00000507005.1:n.*687G>C
ENST00000684711.1:c.979G>C	ENSP00000506841.1:p.Gly327Arg
ENST00000302539.9:c.982G>C	ENSP00000303960.4:p.Gly328Arg
ENST00000389817.8:c.982G>C MANE Select	ENSP00000374467.4:p.Gly328Arg
ENST00000532728.6:c.858G>C
ENST00000635881.1:n.1010G>C
ENST00000642271.1:c.979G>C	ENSP00000493749.1:p.Gly327Arg
ENST00000642611.1:n.933G>C
ENST00000642902.1:c.963G>C
ENST00000643260.1:c.979G>C	ENSP00000494450.1:p.Gly327Arg
ENST00000643562.1:c.982G>C	ENSP00000496124.1:p.Gly328Arg
ENST00000644472.1:c.979G>C	ENSP00000495378.1:p.Gly327Arg
ENST00000644484.1:c.979G>C	ENSP00000493558.1:p.Gly327Arg
ENST00000644542.1:c.*684G>C	ENSP00000495532.1:n.*684G>C
ENST00000644649.1:c.32G>C
ENST00000644675.1:c.979G>C	ENSP00000494567.1:p.Gly327Arg
ENST00000644757.1:c.982G>C	ENSP00000495085.1:p.Gly328Arg
ENST00000644772.1:c.982G>C	ENSP00000494321.1:p.Gly328Arg
ENST00000645076.1:c.264G>C
ENST00000645744.1:c.979G>C	ENSP00000494564.1:p.Gly327Arg
ENST00000645760.1:c.1155G>C
ENST00000645884.1:c.979G>C	ENSP00000495516.1:p.Gly327Arg
ENST00000646003.1:c.979G>C	ENSP00000495259.1:p.Gly327Arg
ENST00000646207.1:c.979G>C	ENSP00000495025.1:p.Gly327Arg
ENST00000646276.1:c.958G>C	ENSP00000496070.1:p.Gly320Arg
ENST00000646592.1:c.233G>C
ENST00000646737.1:c.*1076G>C	ENSP00000494874.1:n.*1076G>C
ENST00000646902.1:c.979G>C	ENSP00000494101.1:p.Gly327Arg
ENST00000646993.1:c.982G>C	ENSP00000493720.1:p.Gly328Arg
ENST00000647013.1:c.880G>C	ENSP00000496741.1:p.Gly294Arg
ENST00000647015.1:c.982G>C	ENSP00000495389.1:p.Gly328Arg
ENST00000647086.1:c.979G>C	ENSP00000493677.1:p.Gly327Arg
ENST00000647158.1:c.979G>C	ENSP00000495744.1:p.Gly327Arg
ENST00000302539.8:c.982G>C	ENSP00000303960.4:p.Gly328Arg
ENST00000389817.7:c.982G>C	ENSP00000374467.3:p.Gly328Arg
ENST00000527905.5:c.982G>C	ENSP00000431653.1:p.Gly328Arg
ENST00000532728.5:n.1013G>C
NM_000352.4:c.982G>C	NP_000343.2:p.Gly328Arg
NM_001287174.1:c.982G>C	NP_001274103.1:p.Gly328Arg
XM_011520331.1:c.979G>C	XP_011518633.1:p.Gly327Arg
XM_011520332.1:c.982G>C	XP_011518634.1:p.Gly328Arg
XM_011520334.1:c.982G>C	XP_011518636.1:p.Gly328Arg
XR_930890.1:n.1045G>C
XR_930891.1:n.1045G>C
XR_930892.1:n.1045G>C
XR_930893.1:n.1045G>C
NM_001351295.1:c.982G>C	NP_001338224.1:p.Gly328Arg
NM_001351296.1:c.979G>C	NP_001338225.1:p.Gly327Arg
NM_001351297.1:c.979G>C	NP_001338226.1:p.Gly327Arg
NR_147094.1:n.1048G>C
XM_017018197.2:c.982G>C	XP_016873686.1:p.Gly328Arg
XM_017018199.1:c.979G>C	XP_016873688.1:p.Gly327Arg
XM_017018201.2:c.982G>C	XP_016873690.1:p.Gly328Arg
XM_017018202.1:c.-536G>C	XP_016873691.1:n.-536G>C
XM_024448668.1:c.-756G>C	XP_024304436.1:n.-756G>C
XR_001747945.2:n.1054G>C
XR_001747946.2:n.1054G>C
XR_002957189.1:n.1054G>C
NM_000352.6:c.982G>C MANE Select	NP_000343.2:p.Gly328Arg
NM_001287174.2:c.982G>C	NP_001274103.1:p.Gly328Arg
NM_001351295.2:c.982G>C	NP_001338224.1:p.Gly328Arg
NM_001351296.2:c.979G>C	NP_001338225.1:p.Gly327Arg
NM_001351297.2:c.979G>C	NP_001338226.1:p.Gly327Arg
NR_147094.2:n.1048G>C
NM_001287174.3:c.982G>C	NP_001274103.1:p.Gly328Arg