Canonical Allele Identifier: CA379807766

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434289A>T (hg19) ; chr11:g.17412742A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412742A>T , CM000673.2:g.17412742A>T	GRCh38
NC_000011.9:g.17434289A>T , CM000673.1:g.17434289A>T	GRCh37
NC_000011.8:g.17390865A>T	NCBI36
NG_008867.1:g.69161T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2149T>A
ENST00000529967.6:n.739T>A
ENST00000642611.2:n.2549T>A
ENST00000682051.1:n.2496T>A
ENST00000682110.1:n.2549T>A
ENST00000682140.1:c.2477T>A	ENSP00000507829.1:p.Ile826Asn
ENST00000682185.1:n.3785T>A
ENST00000682204.1:c.*618T>A	ENSP00000507094.1:n.*618T>A
ENST00000682215.1:n.2546T>A
ENST00000682288.1:c.*911T>A	ENSP00000507506.1:n.*911T>A
ENST00000682442.1:n.2670T>A
ENST00000682528.1:n.2546T>A
ENST00000682673.1:n.2493T>A
ENST00000682805.1:n.2546T>A
ENST00000682965.1:c.2477T>A	ENSP00000508229.1:p.Ile826Asn
ENST00000683093.1:n.2648T>A
ENST00000683136.1:c.2477T>A	ENSP00000507768.1:p.Ile826Asn
ENST00000683153.1:n.2705T>A
ENST00000683365.1:n.2651T>A
ENST00000683377.1:n.2549T>A
ENST00000683456.1:c.2480T>A	ENSP00000508318.1:p.Ile827Asn
ENST00000683522.1:n.2549T>A
ENST00000683562.1:c.*649T>A	ENSP00000508265.1:n.*649T>A
ENST00000683693.1:n.2546T>A
ENST00000683725.1:c.2480T>A	ENSP00000507496.1:p.Ile827Asn
ENST00000684010.1:n.2464T>A
ENST00000684157.1:n.2549T>A
ENST00000684253.1:n.2452T>A
ENST00000684288.1:c.*652T>A	ENSP00000507143.1:n.*652T>A
ENST00000684313.1:n.1981T>A
ENST00000684332.1:n.2622T>A
ENST00000684371.1:n.2655T>A
ENST00000684404.1:n.2546T>A
ENST00000684442.1:n.2549T>A
ENST00000684555.1:c.*692T>A	ENSP00000507705.1:n.*692T>A
ENST00000684571.1:c.2321T>A	ENSP00000506935.1:p.Ile774Asn
ENST00000684593.1:c.*2185T>A	ENSP00000507005.1:n.*2185T>A
ENST00000684711.1:c.*876T>A	ENSP00000506841.1:n.*876T>A
ENST00000302539.9:c.2483T>A	ENSP00000303960.4:p.Ile828Asn
ENST00000389817.8:c.2480T>A MANE Select	ENSP00000374467.4:p.Ile827Asn
ENST00000642271.1:c.2477T>A	ENSP00000493749.1:p.Ile826Asn
ENST00000642579.1:c.564T>A
ENST00000642611.1:n.2434T>A
ENST00000642902.1:c.2315T>A
ENST00000643260.1:c.2480T>A	ENSP00000494450.1:p.Ile827Asn
ENST00000643562.1:c.*456T>A	ENSP00000496124.1:n.*456T>A
ENST00000643925.1:c.524T>A
ENST00000644447.1:c.836T>A	ENSP00000496282.1:p.Ile279Asn
ENST00000644472.1:c.*841T>A	ENSP00000495378.1:n.*841T>A
ENST00000644484.1:c.*689T>A	ENSP00000493558.1:n.*689T>A
ENST00000644542.1:c.*2185T>A	ENSP00000495532.1:n.*2185T>A
ENST00000644675.1:c.*652T>A	ENSP00000494567.1:n.*652T>A
ENST00000644757.1:c.*785T>A	ENSP00000495085.1:n.*785T>A
ENST00000644772.1:c.2546T>A	ENSP00000494321.1:p.Ile849Asn
ENST00000645076.1:c.1732T>A
ENST00000645744.1:c.*844T>A	ENSP00000494564.1:n.*844T>A
ENST00000645760.1:c.2755T>A
ENST00000645884.1:c.2480T>A	ENSP00000495516.1:p.Ile827Asn
ENST00000646003.1:c.*536T>A	ENSP00000495259.1:n.*536T>A
ENST00000646207.1:c.*844T>A	ENSP00000495025.1:n.*844T>A
ENST00000646276.1:c.*753T>A	ENSP00000496070.1:n.*753T>A
ENST00000646592.1:c.1706T>A
ENST00000646902.1:c.2477T>A	ENSP00000494101.1:p.Ile826Asn
ENST00000646993.1:c.*876T>A	ENSP00000493720.1:n.*876T>A
ENST00000647013.1:c.2486T>A	ENSP00000496741.1:n.2486T>A
ENST00000647015.1:c.2231T>A	ENSP00000495389.1:p.Ile744Asn
ENST00000647086.1:c.*2210T>A	ENSP00000493677.1:n.*2210T>A
ENST00000647158.1:c.*621T>A	ENSP00000495744.1:n.*621T>A
ENST00000302539.8:c.2483T>A	ENSP00000303960.4:p.Ile828Asn
ENST00000389817.7:c.2480T>A	ENSP00000374467.3:p.Ile827Asn
ENST00000526921.5:n.164T>A
ENST00000527905.5:c.2450T>A	ENSP00000431653.1:p.Ile817Asn
ENST00000529967.5:n.149T>A
ENST00000530147.5:n.63T>A
ENST00000531911.1:n.594T>A
NM_000352.4:c.2480T>A	NP_000343.2:p.Ile827Asn
NM_001287174.1:c.2483T>A	NP_001274103.1:p.Ile828Asn
XM_011520331.1:c.2480T>A	XP_011518633.1:p.Ile827Asn
XM_011520332.1:c.2483T>A	XP_011518634.1:p.Ile828Asn
XM_011520333.1:c.980T>A	XP_011518635.1:p.Ile327Asn
XM_011520334.1:c.2483T>A	XP_011518636.1:p.Ile828Asn
XR_930890.1:n.2546T>A
XR_930891.1:n.2546T>A
XR_930892.1:n.2546T>A
XR_930893.1:n.2543T>A
NM_001351295.1:c.2546T>A	NP_001338224.1:p.Ile849Asn
NM_001351296.1:c.2480T>A	NP_001338225.1:p.Ile827Asn
NM_001351297.1:c.2477T>A	NP_001338226.1:p.Ile826Asn
NR_147094.1:n.2549T>A
XM_017018197.2:c.2549T>A	XP_016873686.1:p.Ile850Asn
XM_017018199.1:c.2546T>A	XP_016873688.1:p.Ile849Asn
XM_017018201.2:c.2549T>A	XP_016873690.1:p.Ile850Asn
XM_017018202.1:c.1046T>A	XP_016873691.1:p.Ile349Asn
XM_017018204.1:c.437T>A	XP_016873693.1:p.Ile146Asn
XM_024448668.1:c.848T>A	XP_024304436.1:p.Ile283Asn
XR_001747945.2:n.2621T>A
XR_001747946.2:n.2552T>A
XR_002957189.1:n.2621T>A
NM_000352.6:c.2480T>A MANE Select	NP_000343.2:p.Ile827Asn
NM_001287174.2:c.2483T>A	NP_001274103.1:p.Ile828Asn
NM_001351295.2:c.2546T>A	NP_001338224.1:p.Ile849Asn
NM_001351296.2:c.2480T>A	NP_001338225.1:p.Ile827Asn
NM_001351297.2:c.2477T>A	NP_001338226.1:p.Ile826Asn
NR_147094.2:n.2549T>A
NM_001287174.3:c.2483T>A	NP_001274103.1:p.Ile828Asn