Canonical Allele Identifier: CA379804946

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429968T>G (hg19) ; chr11:g.17408421T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408421T>G , CM000673.2:g.17408421T>G	GRCh38
NC_000011.9:g.17429968T>G , CM000673.1:g.17429968T>G	GRCh37
NC_000011.8:g.17386544T>G	NCBI36
NG_008867.1:g.73482A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2460A>C
ENST00000529967.6:n.1050A>C
ENST00000532220.2:n.523A>C
ENST00000642611.2:n.2860A>C
ENST00000682051.1:n.2807A>C
ENST00000682110.1:n.2860A>C
ENST00000682140.1:c.2788A>C	ENSP00000507829.1:p.Met930Leu
ENST00000682185.1:n.4096A>C
ENST00000682204.1:c.*929A>C	ENSP00000507094.1:n.*929A>C
ENST00000682215.1:n.2857A>C
ENST00000682288.1:c.*1222A>C	ENSP00000507506.1:n.*1222A>C
ENST00000682442.1:n.2981A>C
ENST00000682528.1:n.2857A>C
ENST00000682673.1:n.2804A>C
ENST00000682805.1:n.2857A>C
ENST00000682965.1:c.2788A>C	ENSP00000508229.1:p.Met930Leu
ENST00000683093.1:n.2959A>C
ENST00000683136.1:c.2788A>C	ENSP00000507768.1:p.Met930Leu
ENST00000683153.1:n.3016A>C
ENST00000683365.1:n.2962A>C
ENST00000683377.1:n.2860A>C
ENST00000683456.1:c.2791A>C	ENSP00000508318.1:p.Met931Leu
ENST00000683522.1:n.2860A>C
ENST00000683562.1:c.*960A>C	ENSP00000508265.1:n.*960A>C
ENST00000683693.1:n.2857A>C
ENST00000683725.1:c.2791A>C	ENSP00000507496.1:p.Met931Leu
ENST00000684010.1:n.2775A>C
ENST00000684157.1:n.2860A>C
ENST00000684253.1:n.2763A>C
ENST00000684288.1:c.*963A>C	ENSP00000507143.1:n.*963A>C
ENST00000684313.1:n.2292A>C
ENST00000684332.1:n.2933A>C
ENST00000684371.1:n.2966A>C
ENST00000684404.1:n.2857A>C
ENST00000684442.1:n.2860A>C
ENST00000684555.1:c.*1003A>C	ENSP00000507705.1:n.*1003A>C
ENST00000684571.1:c.2632A>C	ENSP00000506935.1:p.Met878Leu
ENST00000684593.1:c.*2496A>C	ENSP00000507005.1:n.*2496A>C
ENST00000684711.1:c.*1187A>C	ENSP00000506841.1:n.*1187A>C
ENST00000302539.9:c.2794A>C	ENSP00000303960.4:p.Met932Leu
ENST00000389817.8:c.2791A>C MANE Select	ENSP00000374467.4:p.Met931Leu
ENST00000642271.1:c.2788A>C	ENSP00000493749.1:p.Met930Leu
ENST00000642579.1:c.875A>C
ENST00000642611.1:n.2745A>C
ENST00000642902.1:c.2626A>C
ENST00000643260.1:c.2791A>C	ENSP00000494450.1:p.Met931Leu
ENST00000643562.1:c.*767A>C	ENSP00000496124.1:n.*767A>C
ENST00000643925.1:c.835A>C
ENST00000644447.1:c.1147A>C	ENSP00000496282.1:p.Met383Leu
ENST00000644484.1:c.*1000A>C	ENSP00000493558.1:n.*1000A>C
ENST00000644542.1:c.*2496A>C	ENSP00000495532.1:n.*2496A>C
ENST00000644675.1:c.*963A>C	ENSP00000494567.1:n.*963A>C
ENST00000644757.1:c.*1096A>C	ENSP00000495085.1:n.*1096A>C
ENST00000644772.1:c.2857A>C	ENSP00000494321.1:p.Met953Leu
ENST00000645076.1:c.2043A>C
ENST00000645744.1:c.*1155A>C	ENSP00000494564.1:n.*1155A>C
ENST00000645760.1:c.3066A>C
ENST00000645884.1:c.2791A>C	ENSP00000495516.1:p.Met931Leu
ENST00000646003.1:c.*847A>C	ENSP00000495259.1:n.*847A>C
ENST00000646207.1:c.*1155A>C	ENSP00000495025.1:n.*1155A>C
ENST00000646276.1:c.*1064A>C	ENSP00000496070.1:n.*1064A>C
ENST00000646592.1:c.2017A>C
ENST00000646902.1:c.2788A>C	ENSP00000494101.1:p.Met930Leu
ENST00000646993.1:c.*1187A>C	ENSP00000493720.1:n.*1187A>C
ENST00000647013.1:c.2797A>C	ENSP00000496741.1:n.2797A>C
ENST00000647015.1:c.2542A>C	ENSP00000495389.1:p.Met848Leu
ENST00000647086.1:c.*2521A>C	ENSP00000493677.1:n.*2521A>C
ENST00000647158.1:c.*932A>C	ENSP00000495744.1:n.*932A>C
ENST00000302539.8:c.2794A>C	ENSP00000303960.4:p.Met932Leu
ENST00000389817.7:c.2791A>C	ENSP00000374467.3:p.Met931Leu
ENST00000526921.5:n.475A>C
ENST00000527905.5:c.2761A>C	ENSP00000431653.1:p.Met921Leu
ENST00000529967.5:n.460A>C
NM_000352.4:c.2791A>C	NP_000343.2:p.Met931Leu
NM_001287174.1:c.2794A>C	NP_001274103.1:p.Met932Leu
XM_011520331.1:c.2791A>C	XP_011518633.1:p.Met931Leu
XM_011520332.1:c.2794A>C	XP_011518634.1:p.Met932Leu
XM_011520333.1:c.1291A>C	XP_011518635.1:p.Met431Leu
XM_011520334.1:c.2794A>C	XP_011518636.1:p.Met932Leu
XR_930890.1:n.2857A>C
XR_930891.1:n.2857A>C
XR_930892.1:n.2857A>C
XR_930893.1:n.2854A>C
NM_001351295.1:c.2857A>C	NP_001338224.1:p.Met953Leu
NM_001351296.1:c.2791A>C	NP_001338225.1:p.Met931Leu
NM_001351297.1:c.2788A>C	NP_001338226.1:p.Met930Leu
NR_147094.1:n.2860A>C
XM_017018197.2:c.2860A>C	XP_016873686.1:p.Met954Leu
XM_017018199.1:c.2857A>C	XP_016873688.1:p.Met953Leu
XM_017018201.2:c.2860A>C	XP_016873690.1:p.Met954Leu
XM_017018202.1:c.1357A>C	XP_016873691.1:p.Met453Leu
XM_017018204.1:c.748A>C	XP_016873693.1:p.Met250Leu
XM_024448668.1:c.1159A>C	XP_024304436.1:p.Met387Leu
XR_001747945.2:n.2932A>C
XR_001747946.2:n.2863A>C
XR_002957189.1:n.2932A>C
NM_000352.6:c.2791A>C MANE Select	NP_000343.2:p.Met931Leu
NM_001287174.2:c.2794A>C	NP_001274103.1:p.Met932Leu
NM_001351295.2:c.2857A>C	NP_001338224.1:p.Met953Leu
NM_001351296.2:c.2791A>C	NP_001338225.1:p.Met931Leu
NM_001351297.2:c.2788A>C	NP_001338226.1:p.Met930Leu
NR_147094.2:n.2860A>C
NM_001287174.3:c.2794A>C	NP_001274103.1:p.Met932Leu