Canonical Allele Identifier: CA379807613

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434271T>G (hg19) ; chr11:g.17412724T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412724T>G , CM000673.2:g.17412724T>G	GRCh38
NC_000011.9:g.17434271T>G , CM000673.1:g.17434271T>G	GRCh37
NC_000011.8:g.17390847T>G	NCBI36
NG_008867.1:g.69179A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2167A>C
ENST00000529967.6:n.757A>C
ENST00000642611.2:n.2567A>C
ENST00000682051.1:n.2514A>C
ENST00000682110.1:n.2567A>C
ENST00000682140.1:c.2495A>C	ENSP00000507829.1:p.Gln832Pro
ENST00000682185.1:n.3803A>C
ENST00000682204.1:c.*636A>C	ENSP00000507094.1:n.*636A>C
ENST00000682215.1:n.2564A>C
ENST00000682288.1:c.*929A>C	ENSP00000507506.1:n.*929A>C
ENST00000682442.1:n.2688A>C
ENST00000682528.1:n.2564A>C
ENST00000682673.1:n.2511A>C
ENST00000682805.1:n.2564A>C
ENST00000682965.1:c.2495A>C	ENSP00000508229.1:p.Gln832Pro
ENST00000683093.1:n.2666A>C
ENST00000683136.1:c.2495A>C	ENSP00000507768.1:p.Gln832Pro
ENST00000683153.1:n.2723A>C
ENST00000683365.1:n.2669A>C
ENST00000683377.1:n.2567A>C
ENST00000683456.1:c.2498A>C	ENSP00000508318.1:p.Gln833Pro
ENST00000683522.1:n.2567A>C
ENST00000683562.1:c.*667A>C	ENSP00000508265.1:n.*667A>C
ENST00000683693.1:n.2564A>C
ENST00000683725.1:c.2498A>C	ENSP00000507496.1:p.Gln833Pro
ENST00000684010.1:n.2482A>C
ENST00000684157.1:n.2567A>C
ENST00000684253.1:n.2470A>C
ENST00000684288.1:c.*670A>C	ENSP00000507143.1:n.*670A>C
ENST00000684313.1:n.1999A>C
ENST00000684332.1:n.2640A>C
ENST00000684371.1:n.2673A>C
ENST00000684404.1:n.2564A>C
ENST00000684442.1:n.2567A>C
ENST00000684555.1:c.*710A>C	ENSP00000507705.1:n.*710A>C
ENST00000684571.1:c.2339A>C	ENSP00000506935.1:p.Gln780Pro
ENST00000684593.1:c.*2203A>C	ENSP00000507005.1:n.*2203A>C
ENST00000684711.1:c.*894A>C	ENSP00000506841.1:n.*894A>C
ENST00000302539.9:c.2501A>C	ENSP00000303960.4:p.Gln834Pro
ENST00000389817.8:c.2498A>C MANE Select	ENSP00000374467.4:p.Gln833Pro
ENST00000642271.1:c.2495A>C	ENSP00000493749.1:p.Gln832Pro
ENST00000642579.1:c.582A>C
ENST00000642611.1:n.2452A>C
ENST00000642902.1:c.2333A>C
ENST00000643260.1:c.2498A>C	ENSP00000494450.1:p.Gln833Pro
ENST00000643562.1:c.*474A>C	ENSP00000496124.1:n.*474A>C
ENST00000643925.1:c.542A>C
ENST00000644447.1:c.854A>C	ENSP00000496282.1:p.Gln285Pro
ENST00000644472.1:c.*859A>C	ENSP00000495378.1:n.*859A>C
ENST00000644484.1:c.*707A>C	ENSP00000493558.1:n.*707A>C
ENST00000644542.1:c.*2203A>C	ENSP00000495532.1:n.*2203A>C
ENST00000644675.1:c.*670A>C	ENSP00000494567.1:n.*670A>C
ENST00000644757.1:c.*803A>C	ENSP00000495085.1:n.*803A>C
ENST00000644772.1:c.2564A>C	ENSP00000494321.1:p.Gln855Pro
ENST00000645076.1:c.1750A>C
ENST00000645744.1:c.*862A>C	ENSP00000494564.1:n.*862A>C
ENST00000645760.1:c.2773A>C
ENST00000645884.1:c.2498A>C	ENSP00000495516.1:p.Gln833Pro
ENST00000646003.1:c.*554A>C	ENSP00000495259.1:n.*554A>C
ENST00000646207.1:c.*862A>C	ENSP00000495025.1:n.*862A>C
ENST00000646276.1:c.*771A>C	ENSP00000496070.1:n.*771A>C
ENST00000646592.1:c.1724A>C
ENST00000646902.1:c.2495A>C	ENSP00000494101.1:p.Gln832Pro
ENST00000646993.1:c.*894A>C	ENSP00000493720.1:n.*894A>C
ENST00000647013.1:c.2504A>C	ENSP00000496741.1:n.2504A>C
ENST00000647015.1:c.2249A>C	ENSP00000495389.1:p.Gln750Pro
ENST00000647086.1:c.*2228A>C	ENSP00000493677.1:n.*2228A>C
ENST00000647158.1:c.*639A>C	ENSP00000495744.1:n.*639A>C
ENST00000302539.8:c.2501A>C	ENSP00000303960.4:p.Gln834Pro
ENST00000389817.7:c.2498A>C	ENSP00000374467.3:p.Gln833Pro
ENST00000526921.5:n.182A>C
ENST00000527905.5:c.2468A>C	ENSP00000431653.1:p.Gln823Pro
ENST00000529967.5:n.167A>C
ENST00000530147.5:n.81A>C
ENST00000531911.1:n.612A>C
NM_000352.4:c.2498A>C	NP_000343.2:p.Gln833Pro
NM_001287174.1:c.2501A>C	NP_001274103.1:p.Gln834Pro
XM_011520331.1:c.2498A>C	XP_011518633.1:p.Gln833Pro
XM_011520332.1:c.2501A>C	XP_011518634.1:p.Gln834Pro
XM_011520333.1:c.998A>C	XP_011518635.1:p.Gln333Pro
XM_011520334.1:c.2501A>C	XP_011518636.1:p.Gln834Pro
XR_930890.1:n.2564A>C
XR_930891.1:n.2564A>C
XR_930892.1:n.2564A>C
XR_930893.1:n.2561A>C
NM_001351295.1:c.2564A>C	NP_001338224.1:p.Gln855Pro
NM_001351296.1:c.2498A>C	NP_001338225.1:p.Gln833Pro
NM_001351297.1:c.2495A>C	NP_001338226.1:p.Gln832Pro
NR_147094.1:n.2567A>C
XM_017018197.2:c.2567A>C	XP_016873686.1:p.Gln856Pro
XM_017018199.1:c.2564A>C	XP_016873688.1:p.Gln855Pro
XM_017018201.2:c.2567A>C	XP_016873690.1:p.Gln856Pro
XM_017018202.1:c.1064A>C	XP_016873691.1:p.Gln355Pro
XM_017018204.1:c.455A>C	XP_016873693.1:p.Gln152Pro
XM_024448668.1:c.866A>C	XP_024304436.1:p.Gln289Pro
XR_001747945.2:n.2639A>C
XR_001747946.2:n.2570A>C
XR_002957189.1:n.2639A>C
NM_000352.6:c.2498A>C MANE Select	NP_000343.2:p.Gln833Pro
NM_001287174.2:c.2501A>C	NP_001274103.1:p.Gln834Pro
NM_001351295.2:c.2564A>C	NP_001338224.1:p.Gln855Pro
NM_001351296.2:c.2498A>C	NP_001338225.1:p.Gln833Pro
NM_001351297.2:c.2495A>C	NP_001338226.1:p.Gln832Pro
NR_147094.2:n.2567A>C
NM_001287174.3:c.2501A>C	NP_001274103.1:p.Gln834Pro