Canonical Allele Identifier: CA379807530

Gene: ABCC8

Linked Data

• dbSNP Id: rs1954873728
• MyVariant Identifiers: chr11:g.17434259A>G (hg19) ; chr11:g.17412712A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412712A>G , CM000673.2:g.17412712A>G	GRCh38
NC_000011.9:g.17434259A>G , CM000673.1:g.17434259A>G	GRCh37
NC_000011.8:g.17390835A>G	NCBI36
NG_008867.1:g.69191T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2179T>C
ENST00000529967.6:n.769T>C
ENST00000642611.2:n.2579T>C
ENST00000682051.1:n.2526T>C
ENST00000682110.1:n.2579T>C
ENST00000682140.1:c.2507T>C	ENSP00000507829.1:p.Ile836Thr
ENST00000682185.1:n.3815T>C
ENST00000682204.1:c.*648T>C	ENSP00000507094.1:n.*648T>C
ENST00000682215.1:n.2576T>C
ENST00000682288.1:c.*941T>C	ENSP00000507506.1:n.*941T>C
ENST00000682442.1:n.2700T>C
ENST00000682528.1:n.2576T>C
ENST00000682673.1:n.2523T>C
ENST00000682805.1:n.2576T>C
ENST00000682965.1:c.2507T>C	ENSP00000508229.1:p.Ile836Thr
ENST00000683093.1:n.2678T>C
ENST00000683136.1:c.2507T>C	ENSP00000507768.1:p.Ile836Thr
ENST00000683153.1:n.2735T>C
ENST00000683365.1:n.2681T>C
ENST00000683377.1:n.2579T>C
ENST00000683456.1:c.2510T>C	ENSP00000508318.1:p.Ile837Thr
ENST00000683522.1:n.2579T>C
ENST00000683562.1:c.*679T>C	ENSP00000508265.1:n.*679T>C
ENST00000683693.1:n.2576T>C
ENST00000683725.1:c.2510T>C	ENSP00000507496.1:p.Ile837Thr
ENST00000684010.1:n.2494T>C
ENST00000684157.1:n.2579T>C
ENST00000684253.1:n.2482T>C
ENST00000684288.1:c.*682T>C	ENSP00000507143.1:n.*682T>C
ENST00000684313.1:n.2011T>C
ENST00000684332.1:n.2652T>C
ENST00000684371.1:n.2685T>C
ENST00000684404.1:n.2576T>C
ENST00000684442.1:n.2579T>C
ENST00000684555.1:c.*722T>C	ENSP00000507705.1:n.*722T>C
ENST00000684571.1:c.2351T>C	ENSP00000506935.1:p.Ile784Thr
ENST00000684593.1:c.*2215T>C	ENSP00000507005.1:n.*2215T>C
ENST00000684711.1:c.*906T>C	ENSP00000506841.1:n.*906T>C
ENST00000302539.9:c.2513T>C	ENSP00000303960.4:p.Ile838Thr
ENST00000389817.8:c.2510T>C MANE Select	ENSP00000374467.4:p.Ile837Thr
ENST00000642271.1:c.2507T>C	ENSP00000493749.1:p.Ile836Thr
ENST00000642579.1:c.594T>C
ENST00000642611.1:n.2464T>C
ENST00000642902.1:c.2345T>C
ENST00000643260.1:c.2510T>C	ENSP00000494450.1:p.Ile837Thr
ENST00000643562.1:c.*486T>C	ENSP00000496124.1:n.*486T>C
ENST00000643925.1:c.554T>C
ENST00000644447.1:c.866T>C	ENSP00000496282.1:p.Ile289Thr
ENST00000644472.1:c.*871T>C	ENSP00000495378.1:n.*871T>C
ENST00000644484.1:c.*719T>C	ENSP00000493558.1:n.*719T>C
ENST00000644542.1:c.*2215T>C	ENSP00000495532.1:n.*2215T>C
ENST00000644675.1:c.*682T>C	ENSP00000494567.1:n.*682T>C
ENST00000644757.1:c.*815T>C	ENSP00000495085.1:n.*815T>C
ENST00000644772.1:c.2576T>C	ENSP00000494321.1:p.Ile859Thr
ENST00000645076.1:c.1762T>C
ENST00000645744.1:c.*874T>C	ENSP00000494564.1:n.*874T>C
ENST00000645760.1:c.2785T>C
ENST00000645884.1:c.2510T>C	ENSP00000495516.1:p.Ile837Thr
ENST00000646003.1:c.*566T>C	ENSP00000495259.1:n.*566T>C
ENST00000646207.1:c.*874T>C	ENSP00000495025.1:n.*874T>C
ENST00000646276.1:c.*783T>C	ENSP00000496070.1:n.*783T>C
ENST00000646592.1:c.1736T>C
ENST00000646902.1:c.2507T>C	ENSP00000494101.1:p.Ile836Thr
ENST00000646993.1:c.*906T>C	ENSP00000493720.1:n.*906T>C
ENST00000647013.1:c.2516T>C	ENSP00000496741.1:n.2516T>C
ENST00000647015.1:c.2261T>C	ENSP00000495389.1:p.Ile754Thr
ENST00000647086.1:c.*2240T>C	ENSP00000493677.1:n.*2240T>C
ENST00000647158.1:c.*651T>C	ENSP00000495744.1:n.*651T>C
ENST00000302539.8:c.2513T>C	ENSP00000303960.4:p.Ile838Thr
ENST00000389817.7:c.2510T>C	ENSP00000374467.3:p.Ile837Thr
ENST00000526921.5:n.194T>C
ENST00000527905.5:c.2480T>C	ENSP00000431653.1:p.Ile827Thr
ENST00000529967.5:n.179T>C
ENST00000530147.5:n.93T>C
ENST00000531911.1:n.624T>C
NM_000352.4:c.2510T>C	NP_000343.2:p.Ile837Thr
NM_001287174.1:c.2513T>C	NP_001274103.1:p.Ile838Thr
XM_011520331.1:c.2510T>C	XP_011518633.1:p.Ile837Thr
XM_011520332.1:c.2513T>C	XP_011518634.1:p.Ile838Thr
XM_011520333.1:c.1010T>C	XP_011518635.1:p.Ile337Thr
XM_011520334.1:c.2513T>C	XP_011518636.1:p.Ile838Thr
XR_930890.1:n.2576T>C
XR_930891.1:n.2576T>C
XR_930892.1:n.2576T>C
XR_930893.1:n.2573T>C
NM_001351295.1:c.2576T>C	NP_001338224.1:p.Ile859Thr
NM_001351296.1:c.2510T>C	NP_001338225.1:p.Ile837Thr
NM_001351297.1:c.2507T>C	NP_001338226.1:p.Ile836Thr
NR_147094.1:n.2579T>C
XM_017018197.2:c.2579T>C	XP_016873686.1:p.Ile860Thr
XM_017018199.1:c.2576T>C	XP_016873688.1:p.Ile859Thr
XM_017018201.2:c.2579T>C	XP_016873690.1:p.Ile860Thr
XM_017018202.1:c.1076T>C	XP_016873691.1:p.Ile359Thr
XM_017018204.1:c.467T>C	XP_016873693.1:p.Ile156Thr
XM_024448668.1:c.878T>C	XP_024304436.1:p.Ile293Thr
XR_001747945.2:n.2651T>C
XR_001747946.2:n.2582T>C
XR_002957189.1:n.2651T>C
NM_000352.6:c.2510T>C MANE Select	NP_000343.2:p.Ile837Thr
NM_001287174.2:c.2513T>C	NP_001274103.1:p.Ile838Thr
NM_001351295.2:c.2576T>C	NP_001338224.1:p.Ile859Thr
NM_001351296.2:c.2510T>C	NP_001338225.1:p.Ile837Thr
NM_001351297.2:c.2507T>C	NP_001338226.1:p.Ile836Thr
NR_147094.2:n.2579T>C
NM_001287174.3:c.2513T>C	NP_001274103.1:p.Ile838Thr