Canonical Allele Identifier: CA473301259

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434249G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412702G>C , CM000673.2:g.17412702G>C	GRCh38
NC_000011.9:g.17434249G>C , CM000673.1:g.17434249G>C	GRCh37
NC_000011.8:g.17390825G>C	NCBI36
NG_008867.1:g.69201C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2189C>G
ENST00000529967.6:n.779C>G
ENST00000642611.2:n.2589C>G
ENST00000682051.1:n.2536C>G
ENST00000682110.1:n.2589C>G
ENST00000682140.1:c.2517C>G	ENSP00000507829.1:p.Ala839=
ENST00000682185.1:n.3825C>G
ENST00000682204.1:c.*658C>G	ENSP00000507094.1:n.*658C>G
ENST00000682215.1:n.2586C>G
ENST00000682288.1:c.*951C>G	ENSP00000507506.1:n.*951C>G
ENST00000682442.1:n.2710C>G
ENST00000682528.1:n.2586C>G
ENST00000682673.1:n.2533C>G
ENST00000682805.1:n.2586C>G
ENST00000682965.1:c.2517C>G	ENSP00000508229.1:p.Ala839=
ENST00000683093.1:n.2688C>G
ENST00000683136.1:c.2517C>G	ENSP00000507768.1:p.Ala839=
ENST00000683153.1:n.2745C>G
ENST00000683365.1:n.2691C>G
ENST00000683377.1:n.2589C>G
ENST00000683456.1:c.2520C>G	ENSP00000508318.1:p.Ala840=
ENST00000683522.1:n.2589C>G
ENST00000683562.1:c.*689C>G	ENSP00000508265.1:n.*689C>G
ENST00000683693.1:n.2586C>G
ENST00000683725.1:c.2520C>G	ENSP00000507496.1:p.Ala840=
ENST00000684010.1:n.2504C>G
ENST00000684157.1:n.2589C>G
ENST00000684253.1:n.2492C>G
ENST00000684288.1:c.*692C>G	ENSP00000507143.1:n.*692C>G
ENST00000684313.1:n.2021C>G
ENST00000684332.1:n.2662C>G
ENST00000684371.1:n.2695C>G
ENST00000684404.1:n.2586C>G
ENST00000684442.1:n.2589C>G
ENST00000684555.1:c.*732C>G	ENSP00000507705.1:n.*732C>G
ENST00000684571.1:c.2361C>G	ENSP00000506935.1:p.Ala787=
ENST00000684593.1:c.*2225C>G	ENSP00000507005.1:n.*2225C>G
ENST00000684711.1:c.*916C>G	ENSP00000506841.1:n.*916C>G
ENST00000302539.9:c.2523C>G	ENSP00000303960.4:p.Ala841=
ENST00000389817.8:c.2520C>G MANE Select	ENSP00000374467.4:p.Ala840=
ENST00000642271.1:c.2517C>G	ENSP00000493749.1:p.Ala839=
ENST00000642579.1:c.604C>G
ENST00000642611.1:n.2474C>G
ENST00000642902.1:c.2355C>G
ENST00000643260.1:c.2520C>G	ENSP00000494450.1:p.Ala840=
ENST00000643562.1:c.*496C>G	ENSP00000496124.1:n.*496C>G
ENST00000643925.1:c.564C>G
ENST00000644447.1:c.876C>G	ENSP00000496282.1:p.Ala292=
ENST00000644472.1:c.*881C>G	ENSP00000495378.1:n.*881C>G
ENST00000644484.1:c.*729C>G	ENSP00000493558.1:n.*729C>G
ENST00000644542.1:c.*2225C>G	ENSP00000495532.1:n.*2225C>G
ENST00000644675.1:c.*692C>G	ENSP00000494567.1:n.*692C>G
ENST00000644757.1:c.*825C>G	ENSP00000495085.1:n.*825C>G
ENST00000644772.1:c.2586C>G	ENSP00000494321.1:p.Ala862=
ENST00000645076.1:c.1772C>G
ENST00000645744.1:c.*884C>G	ENSP00000494564.1:n.*884C>G
ENST00000645760.1:c.2795C>G
ENST00000645884.1:c.2520C>G	ENSP00000495516.1:p.Ala840=
ENST00000646003.1:c.*576C>G	ENSP00000495259.1:n.*576C>G
ENST00000646207.1:c.*884C>G	ENSP00000495025.1:n.*884C>G
ENST00000646276.1:c.*793C>G	ENSP00000496070.1:n.*793C>G
ENST00000646592.1:c.1746C>G
ENST00000646902.1:c.2517C>G	ENSP00000494101.1:p.Ala839=
ENST00000646993.1:c.*916C>G	ENSP00000493720.1:n.*916C>G
ENST00000647013.1:c.2526C>G	ENSP00000496741.1:n.2526C>G
ENST00000647015.1:c.2271C>G	ENSP00000495389.1:p.Ala757=
ENST00000647086.1:c.*2250C>G	ENSP00000493677.1:n.*2250C>G
ENST00000647158.1:c.*661C>G	ENSP00000495744.1:n.*661C>G
ENST00000302539.8:c.2523C>G	ENSP00000303960.4:p.Ala841=
ENST00000389817.7:c.2520C>G	ENSP00000374467.3:p.Ala840=
ENST00000526921.5:n.204C>G
ENST00000527905.5:c.2490C>G	ENSP00000431653.1:p.Ala830=
ENST00000529967.5:n.189C>G
ENST00000530147.5:n.103C>G
ENST00000531911.1:n.634C>G
NM_000352.4:c.2520C>G	NP_000343.2:p.Ala840=
NM_001287174.1:c.2523C>G	NP_001274103.1:p.Ala841=
XM_011520331.1:c.2520C>G	XP_011518633.1:p.Ala840=
XM_011520332.1:c.2523C>G	XP_011518634.1:p.Ala841=
XM_011520333.1:c.1020C>G	XP_011518635.1:p.Ala340=
XM_011520334.1:c.2523C>G	XP_011518636.1:p.Ala841=
XR_930890.1:n.2586C>G
XR_930891.1:n.2586C>G
XR_930892.1:n.2586C>G
XR_930893.1:n.2583C>G
NM_001351295.1:c.2586C>G	NP_001338224.1:p.Ala862=
NM_001351296.1:c.2520C>G	NP_001338225.1:p.Ala840=
NM_001351297.1:c.2517C>G	NP_001338226.1:p.Ala839=
NR_147094.1:n.2589C>G
XM_017018197.2:c.2589C>G	XP_016873686.1:p.Ala863=
XM_017018199.1:c.2586C>G	XP_016873688.1:p.Ala862=
XM_017018201.2:c.2589C>G	XP_016873690.1:p.Ala863=
XM_017018202.1:c.1086C>G	XP_016873691.1:p.Ala362=
XM_017018204.1:c.477C>G	XP_016873693.1:p.Ala159=
XM_024448668.1:c.888C>G	XP_024304436.1:p.Ala296=
XR_001747945.2:n.2661C>G
XR_001747946.2:n.2592C>G
XR_002957189.1:n.2661C>G
NM_000352.6:c.2520C>G MANE Select	NP_000343.2:p.Ala840=
NM_001287174.2:c.2523C>G	NP_001274103.1:p.Ala841=
NM_001351295.2:c.2586C>G	NP_001338224.1:p.Ala862=
NM_001351296.2:c.2520C>G	NP_001338225.1:p.Ala840=
NM_001351297.2:c.2517C>G	NP_001338226.1:p.Ala839=
NR_147094.2:n.2589C>G
NM_001287174.3:c.2523C>G	NP_001274103.1:p.Ala841=