Canonical Allele Identifier: CA379804962

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429973G>A (hg19) ; chr11:g.17408426G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408426G>A , CM000673.2:g.17408426G>A	GRCh38
NC_000011.9:g.17429973G>A , CM000673.1:g.17429973G>A	GRCh37
NC_000011.8:g.17386549G>A	NCBI36
NG_008867.1:g.73477C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2455C>T
ENST00000529967.6:n.1045C>T
ENST00000532220.2:n.518C>T
ENST00000642611.2:n.2855C>T
ENST00000682051.1:n.2802C>T
ENST00000682110.1:n.2855C>T
ENST00000682140.1:c.2783C>T	ENSP00000507829.1:p.Thr928Ile
ENST00000682185.1:n.4091C>T
ENST00000682204.1:c.*924C>T	ENSP00000507094.1:n.*924C>T
ENST00000682215.1:n.2852C>T
ENST00000682288.1:c.*1217C>T	ENSP00000507506.1:n.*1217C>T
ENST00000682442.1:n.2976C>T
ENST00000682528.1:n.2852C>T
ENST00000682673.1:n.2799C>T
ENST00000682805.1:n.2852C>T
ENST00000682965.1:c.2783C>T	ENSP00000508229.1:p.Thr928Ile
ENST00000683093.1:n.2954C>T
ENST00000683136.1:c.2783C>T	ENSP00000507768.1:p.Thr928Ile
ENST00000683153.1:n.3011C>T
ENST00000683365.1:n.2957C>T
ENST00000683377.1:n.2855C>T
ENST00000683456.1:c.2786C>T	ENSP00000508318.1:p.Thr929Ile
ENST00000683522.1:n.2855C>T
ENST00000683562.1:c.*955C>T	ENSP00000508265.1:n.*955C>T
ENST00000683693.1:n.2852C>T
ENST00000683725.1:c.2786C>T	ENSP00000507496.1:p.Thr929Ile
ENST00000684010.1:n.2770C>T
ENST00000684157.1:n.2855C>T
ENST00000684253.1:n.2758C>T
ENST00000684288.1:c.*958C>T	ENSP00000507143.1:n.*958C>T
ENST00000684313.1:n.2287C>T
ENST00000684332.1:n.2928C>T
ENST00000684371.1:n.2961C>T
ENST00000684404.1:n.2852C>T
ENST00000684442.1:n.2855C>T
ENST00000684555.1:c.*998C>T	ENSP00000507705.1:n.*998C>T
ENST00000684571.1:c.2627C>T	ENSP00000506935.1:p.Thr876Ile
ENST00000684593.1:c.*2491C>T	ENSP00000507005.1:n.*2491C>T
ENST00000684711.1:c.*1182C>T	ENSP00000506841.1:n.*1182C>T
ENST00000302539.9:c.2789C>T	ENSP00000303960.4:p.Thr930Ile
ENST00000389817.8:c.2786C>T MANE Select	ENSP00000374467.4:p.Thr929Ile
ENST00000642271.1:c.2783C>T	ENSP00000493749.1:p.Thr928Ile
ENST00000642579.1:c.870C>T
ENST00000642611.1:n.2740C>T
ENST00000642902.1:c.2621C>T
ENST00000643260.1:c.2786C>T	ENSP00000494450.1:p.Thr929Ile
ENST00000643562.1:c.*762C>T	ENSP00000496124.1:n.*762C>T
ENST00000643925.1:c.830C>T
ENST00000644447.1:c.1142C>T	ENSP00000496282.1:p.Thr381Ile
ENST00000644484.1:c.*995C>T	ENSP00000493558.1:n.*995C>T
ENST00000644542.1:c.*2491C>T	ENSP00000495532.1:n.*2491C>T
ENST00000644675.1:c.*958C>T	ENSP00000494567.1:n.*958C>T
ENST00000644757.1:c.*1091C>T	ENSP00000495085.1:n.*1091C>T
ENST00000644772.1:c.2852C>T	ENSP00000494321.1:p.Thr951Ile
ENST00000645076.1:c.2038C>T
ENST00000645744.1:c.*1150C>T	ENSP00000494564.1:n.*1150C>T
ENST00000645760.1:c.3061C>T
ENST00000645884.1:c.2786C>T	ENSP00000495516.1:p.Thr929Ile
ENST00000646003.1:c.*842C>T	ENSP00000495259.1:n.*842C>T
ENST00000646207.1:c.*1150C>T	ENSP00000495025.1:n.*1150C>T
ENST00000646276.1:c.*1059C>T	ENSP00000496070.1:n.*1059C>T
ENST00000646592.1:c.2012C>T
ENST00000646902.1:c.2783C>T	ENSP00000494101.1:p.Thr928Ile
ENST00000646993.1:c.*1182C>T	ENSP00000493720.1:n.*1182C>T
ENST00000647013.1:c.2792C>T	ENSP00000496741.1:n.2792C>T
ENST00000647015.1:c.2537C>T	ENSP00000495389.1:p.Thr846Ile
ENST00000647086.1:c.*2516C>T	ENSP00000493677.1:n.*2516C>T
ENST00000647158.1:c.*927C>T	ENSP00000495744.1:n.*927C>T
ENST00000302539.8:c.2789C>T	ENSP00000303960.4:p.Thr930Ile
ENST00000389817.7:c.2786C>T	ENSP00000374467.3:p.Thr929Ile
ENST00000526921.5:n.470C>T
ENST00000527905.5:c.2756C>T	ENSP00000431653.1:p.Thr919Ile
ENST00000529967.5:n.455C>T
NM_000352.4:c.2786C>T	NP_000343.2:p.Thr929Ile
NM_001287174.1:c.2789C>T	NP_001274103.1:p.Thr930Ile
XM_011520331.1:c.2786C>T	XP_011518633.1:p.Thr929Ile
XM_011520332.1:c.2789C>T	XP_011518634.1:p.Thr930Ile
XM_011520333.1:c.1286C>T	XP_011518635.1:p.Thr429Ile
XM_011520334.1:c.2789C>T	XP_011518636.1:p.Thr930Ile
XR_930890.1:n.2852C>T
XR_930891.1:n.2852C>T
XR_930892.1:n.2852C>T
XR_930893.1:n.2849C>T
NM_001351295.1:c.2852C>T	NP_001338224.1:p.Thr951Ile
NM_001351296.1:c.2786C>T	NP_001338225.1:p.Thr929Ile
NM_001351297.1:c.2783C>T	NP_001338226.1:p.Thr928Ile
NR_147094.1:n.2855C>T
XM_017018197.2:c.2855C>T	XP_016873686.1:p.Thr952Ile
XM_017018199.1:c.2852C>T	XP_016873688.1:p.Thr951Ile
XM_017018201.2:c.2855C>T	XP_016873690.1:p.Thr952Ile
XM_017018202.1:c.1352C>T	XP_016873691.1:p.Thr451Ile
XM_017018204.1:c.743C>T	XP_016873693.1:p.Thr248Ile
XM_024448668.1:c.1154C>T	XP_024304436.1:p.Thr385Ile
XR_001747945.2:n.2927C>T
XR_001747946.2:n.2858C>T
XR_002957189.1:n.2927C>T
NM_000352.6:c.2786C>T MANE Select	NP_000343.2:p.Thr929Ile
NM_001287174.2:c.2789C>T	NP_001274103.1:p.Thr930Ile
NM_001351295.2:c.2852C>T	NP_001338224.1:p.Thr951Ile
NM_001351296.2:c.2786C>T	NP_001338225.1:p.Thr929Ile
NM_001351297.2:c.2783C>T	NP_001338226.1:p.Thr928Ile
NR_147094.2:n.2855C>T
NM_001287174.3:c.2789C>T	NP_001274103.1:p.Thr930Ile