Canonical Allele Identifier: CA379805499

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17408507-A-G
• MyVariant Identifiers: chr11:g.17430054A>G (hg19) ; chr11:g.17408507A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408507A>G , CM000673.2:g.17408507A>G	GRCh38
NC_000011.9:g.17430054A>G , CM000673.1:g.17430054A>G	GRCh37
NC_000011.8:g.17386630A>G	NCBI36
NG_008867.1:g.73396T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2374T>C
ENST00000529967.6:n.964T>C
ENST00000532220.2:n.437T>C
ENST00000642611.2:n.2774T>C
ENST00000682051.1:n.2721T>C
ENST00000682110.1:n.2774T>C
ENST00000682140.1:c.2702T>C	ENSP00000507829.1:p.Met901Thr
ENST00000682185.1:n.4010T>C
ENST00000682204.1:c.*843T>C	ENSP00000507094.1:n.*843T>C
ENST00000682215.1:n.2771T>C
ENST00000682288.1:c.*1136T>C	ENSP00000507506.1:n.*1136T>C
ENST00000682442.1:n.2895T>C
ENST00000682528.1:n.2771T>C
ENST00000682673.1:n.2718T>C
ENST00000682805.1:n.2771T>C
ENST00000682965.1:c.2702T>C	ENSP00000508229.1:p.Met901Thr
ENST00000683093.1:n.2873T>C
ENST00000683136.1:c.2702T>C	ENSP00000507768.1:p.Met901Thr
ENST00000683153.1:n.2930T>C
ENST00000683365.1:n.2876T>C
ENST00000683377.1:n.2774T>C
ENST00000683456.1:c.2705T>C	ENSP00000508318.1:p.Met902Thr
ENST00000683522.1:n.2774T>C
ENST00000683562.1:c.*874T>C	ENSP00000508265.1:n.*874T>C
ENST00000683693.1:n.2771T>C
ENST00000683725.1:c.2705T>C	ENSP00000507496.1:p.Met902Thr
ENST00000684010.1:n.2689T>C
ENST00000684157.1:n.2774T>C
ENST00000684253.1:n.2677T>C
ENST00000684288.1:c.*877T>C	ENSP00000507143.1:n.*877T>C
ENST00000684313.1:n.2206T>C
ENST00000684332.1:n.2847T>C
ENST00000684371.1:n.2880T>C
ENST00000684404.1:n.2771T>C
ENST00000684442.1:n.2774T>C
ENST00000684555.1:c.*917T>C	ENSP00000507705.1:n.*917T>C
ENST00000684571.1:c.2546T>C	ENSP00000506935.1:p.Met849Thr
ENST00000684593.1:c.*2410T>C	ENSP00000507005.1:n.*2410T>C
ENST00000684711.1:c.*1101T>C	ENSP00000506841.1:n.*1101T>C
ENST00000302539.9:c.2708T>C	ENSP00000303960.4:p.Met903Thr
ENST00000389817.8:c.2705T>C MANE Select	ENSP00000374467.4:p.Met902Thr
ENST00000642271.1:c.2702T>C	ENSP00000493749.1:p.Met901Thr
ENST00000642579.1:c.789T>C
ENST00000642611.1:n.2659T>C
ENST00000642902.1:c.2540T>C
ENST00000643260.1:c.2705T>C	ENSP00000494450.1:p.Met902Thr
ENST00000643562.1:c.*681T>C	ENSP00000496124.1:n.*681T>C
ENST00000643925.1:c.749T>C
ENST00000644447.1:c.1061T>C	ENSP00000496282.1:p.Met354Thr
ENST00000644472.1:c.*1066T>C	ENSP00000495378.1:n.*1066T>C
ENST00000644484.1:c.*914T>C	ENSP00000493558.1:n.*914T>C
ENST00000644542.1:c.*2410T>C	ENSP00000495532.1:n.*2410T>C
ENST00000644675.1:c.*877T>C	ENSP00000494567.1:n.*877T>C
ENST00000644757.1:c.*1010T>C	ENSP00000495085.1:n.*1010T>C
ENST00000644772.1:c.2771T>C	ENSP00000494321.1:p.Met924Thr
ENST00000645076.1:c.1957T>C
ENST00000645744.1:c.*1069T>C	ENSP00000494564.1:n.*1069T>C
ENST00000645760.1:c.2980T>C
ENST00000645884.1:c.2705T>C	ENSP00000495516.1:p.Met902Thr
ENST00000646003.1:c.*761T>C	ENSP00000495259.1:n.*761T>C
ENST00000646207.1:c.*1069T>C	ENSP00000495025.1:n.*1069T>C
ENST00000646276.1:c.*978T>C	ENSP00000496070.1:n.*978T>C
ENST00000646592.1:c.1931T>C
ENST00000646902.1:c.2702T>C	ENSP00000494101.1:p.Met901Thr
ENST00000646993.1:c.*1101T>C	ENSP00000493720.1:n.*1101T>C
ENST00000647013.1:c.2711T>C	ENSP00000496741.1:n.2711T>C
ENST00000647015.1:c.2456T>C	ENSP00000495389.1:p.Met819Thr
ENST00000647086.1:c.*2435T>C	ENSP00000493677.1:n.*2435T>C
ENST00000647158.1:c.*846T>C	ENSP00000495744.1:n.*846T>C
ENST00000302539.8:c.2708T>C	ENSP00000303960.4:p.Met903Thr
ENST00000389817.7:c.2705T>C	ENSP00000374467.3:p.Met902Thr
ENST00000526921.5:n.389T>C
ENST00000527905.5:c.2675T>C	ENSP00000431653.1:p.Met892Thr
ENST00000529967.5:n.374T>C
NM_000352.4:c.2705T>C	NP_000343.2:p.Met902Thr
NM_001287174.1:c.2708T>C	NP_001274103.1:p.Met903Thr
XM_011520331.1:c.2705T>C	XP_011518633.1:p.Met902Thr
XM_011520332.1:c.2708T>C	XP_011518634.1:p.Met903Thr
XM_011520333.1:c.1205T>C	XP_011518635.1:p.Met402Thr
XM_011520334.1:c.2708T>C	XP_011518636.1:p.Met903Thr
XR_930890.1:n.2771T>C
XR_930891.1:n.2771T>C
XR_930892.1:n.2771T>C
XR_930893.1:n.2768T>C
NM_001351295.1:c.2771T>C	NP_001338224.1:p.Met924Thr
NM_001351296.1:c.2705T>C	NP_001338225.1:p.Met902Thr
NM_001351297.1:c.2702T>C	NP_001338226.1:p.Met901Thr
NR_147094.1:n.2774T>C
XM_017018197.2:c.2774T>C	XP_016873686.1:p.Met925Thr
XM_017018199.1:c.2771T>C	XP_016873688.1:p.Met924Thr
XM_017018201.2:c.2774T>C	XP_016873690.1:p.Met925Thr
XM_017018202.1:c.1271T>C	XP_016873691.1:p.Met424Thr
XM_017018204.1:c.662T>C	XP_016873693.1:p.Met221Thr
XM_024448668.1:c.1073T>C	XP_024304436.1:p.Met358Thr
XR_001747945.2:n.2846T>C
XR_001747946.2:n.2777T>C
XR_002957189.1:n.2846T>C
NM_000352.6:c.2705T>C MANE Select	NP_000343.2:p.Met902Thr
NM_001287174.2:c.2708T>C	NP_001274103.1:p.Met903Thr
NM_001351295.2:c.2771T>C	NP_001338224.1:p.Met924Thr
NM_001351296.2:c.2705T>C	NP_001338225.1:p.Met902Thr
NM_001351297.2:c.2702T>C	NP_001338226.1:p.Met901Thr
NR_147094.2:n.2774T>C
NM_001287174.3:c.2708T>C	NP_001274103.1:p.Met903Thr