Canonical Allele Identifier: CA379797901
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404566A>C , CM000673.2:g.17404566A>C GRCh38
NC_000011.9:g.17426113A>C , CM000673.1:g.17426113A>C GRCh37
NC_000011.8:g.17382689A>C NCBI36
NG_008867.1:g.77337T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3072T>G
ENST00000528374.2:c.82T>G
ENST00000529967.6:n.1842T>G
ENST00000532220.2:n.1235T>G
ENST00000642611.2:n.3572T>G
ENST00000645004.2:n.1002T>G
ENST00000682051.1:n.3519T>G
ENST00000682110.1:n.3572T>G
ENST00000682140.1:c.3500T>G ENSP00000507829.1:p.Leu1167Trp
ENST00000682185.1:n.4808T>G
ENST00000682204.1:c.*1641T>G ENSP00000507094.1:n.*1641T>G
ENST00000682215.1:n.3569T>G
ENST00000682288.1:c.*1934T>G ENSP00000507506.1:n.*1934T>G
ENST00000682442.1:n.3792T>G
ENST00000682528.1:n.3649T>G
ENST00000682673.1:n.3516T>G
ENST00000682805.1:n.3569T>G
ENST00000682965.1:c.3396+928T>G ENSP00000508229.1:n.3396+928T>G
ENST00000683093.1:n.3671T>G
ENST00000683136.1:c.3500T>G ENSP00000507768.1:p.Leu1167Trp
ENST00000683153.1:n.3728T>G
ENST00000683365.1:n.3674T>G
ENST00000683377.1:n.3572T>G
ENST00000683456.1:c.*640T>G ENSP00000508318.1:n.*640T>G
ENST00000683522.1:n.3572T>G
ENST00000683562.1:c.*1672T>G ENSP00000508265.1:n.*1672T>G
ENST00000683693.1:n.3649T>G
ENST00000683725.1:c.3503T>G ENSP00000507496.1:p.Leu1168Trp
ENST00000684010.1:n.3567T>G
ENST00000684157.1:n.3572T>G
ENST00000684253.1:n.3475T>G
ENST00000684288.1:c.*1675T>G ENSP00000507143.1:n.*1675T>G
ENST00000684313.1:n.3004T>G
ENST00000684332.1:n.3645T>G
ENST00000684371.1:n.3678T>G
ENST00000684404.1:n.3615T>G
ENST00000684442.1:n.3572T>G
ENST00000684555.1:c.*1715T>G ENSP00000507705.1:n.*1715T>G
ENST00000684571.1:c.3344T>G ENSP00000506935.1:p.Leu1115Trp
ENST00000684593.1:c.*3208T>G ENSP00000507005.1:n.*3208T>G
ENST00000684711.1:c.*1899T>G ENSP00000506841.1:n.*1899T>G
ENST00000302539.9:c.3506T>G ENSP00000303960.4:p.Leu1169Trp
ENST00000389817.8:c.3503T>G MANE Select ENSP00000374467.4:p.Leu1168Trp
ENST00000642271.1:c.3500T>G ENSP00000493749.1:p.Leu1167Trp
ENST00000642579.1:c.1587T>G
ENST00000642611.1:n.3457T>G
ENST00000642902.1:c.3285T>G
ENST00000643260.1:c.3503T>G ENSP00000494450.1:p.Leu1168Trp
ENST00000643562.1:c.*1479T>G ENSP00000496124.1:n.*1479T>G
ENST00000643925.1:c.1627T>G
ENST00000644447.1:c.1859T>G ENSP00000496282.1:p.Leu620Trp
ENST00000644484.1:c.*1758T>G ENSP00000493558.1:n.*1758T>G
ENST00000644675.1:c.*1675T>G ENSP00000494567.1:n.*1675T>G
ENST00000644757.1:c.*1788T>G ENSP00000495085.1:n.*1788T>G
ENST00000644772.1:c.3569T>G ENSP00000494321.1:p.Leu1190Trp
ENST00000645004.1:n.642T>G
ENST00000645076.1:c.2702T>G
ENST00000645417.1:c.669T>G
ENST00000645744.1:c.*1767T>G ENSP00000494564.1:n.*1767T>G
ENST00000645760.1:c.3778T>G
ENST00000645884.1:c.*640T>G ENSP00000495516.1:n.*640T>G
ENST00000646003.1:c.*1459T>G ENSP00000495259.1:n.*1459T>G
ENST00000646207.1:c.*1970T>G ENSP00000495025.1:n.*1970T>G
ENST00000646276.1:c.*1776T>G ENSP00000496070.1:n.*1776T>G
ENST00000646592.1:c.2809T>G
ENST00000646902.1:c.3500T>G ENSP00000494101.1:p.Leu1167Trp
ENST00000646993.1:c.*1899T>G ENSP00000493720.1:n.*1899T>G
ENST00000647013.1:c.3509T>G ENSP00000496741.1:n.3509T>G
ENST00000647015.1:c.3254T>G ENSP00000495389.1:p.Leu1085Trp
ENST00000647086.1:c.*3233T>G ENSP00000493677.1:n.*3233T>G
ENST00000647158.1:c.*1644T>G ENSP00000495744.1:n.*1644T>G
ENST00000302539.8:c.3506T>G ENSP00000303960.4:p.Leu1169Trp
ENST00000389817.7:c.3503T>G ENSP00000374467.3:p.Leu1168Trp
ENST00000524561.1:n.635T>G
ENST00000527905.5:c.*379T>G ENSP00000431653.1:n.*379T>G
NM_000352.4:c.3503T>G NP_000343.2:p.Leu1168Trp
NM_001287174.1:c.3506T>G NP_001274103.1:p.Leu1169Trp
XM_011520331.1:c.3503T>G XP_011518633.1:p.Leu1168Trp
XM_011520332.1:c.3506T>G XP_011518634.1:p.Leu1169Trp
XM_011520333.1:c.2003T>G XP_011518635.1:p.Leu668Trp
XR_930890.1:n.3569T>G
XR_930892.1:n.3469T>G
XR_930893.1:n.3466T>G
NM_001351295.1:c.3569T>G NP_001338224.1:p.Leu1190Trp
NM_001351296.1:c.3503T>G NP_001338225.1:p.Leu1168Trp
NM_001351297.1:c.3500T>G NP_001338226.1:p.Leu1167Trp
NR_147094.1:n.3652T>G
XM_017018197.2:c.3572T>G XP_016873686.1:p.Leu1191Trp
XM_017018199.1:c.3569T>G XP_016873688.1:p.Leu1190Trp
XM_017018201.2:c.3572T>G XP_016873690.1:p.Leu1191Trp
XM_017018202.1:c.2069T>G XP_016873691.1:p.Leu690Trp
XM_017018204.1:c.1460T>G XP_016873693.1:p.Leu487Trp
XM_024448668.1:c.1871T>G XP_024304436.1:p.Leu624Trp
XR_001747945.2:n.3644T>G
XR_001747946.2:n.3575T>G
XR_002957189.1:n.3724T>G
NM_000352.6:c.3503T>G MANE Select NP_000343.2:p.Leu1168Trp
NM_001287174.2:c.3506T>G NP_001274103.1:p.Leu1169Trp
NM_001351295.2:c.3569T>G NP_001338224.1:p.Leu1190Trp
NM_001351296.2:c.3503T>G NP_001338225.1:p.Leu1168Trp
NM_001351297.2:c.3500T>G NP_001338226.1:p.Leu1167Trp
NR_147094.2:n.3652T>G
NM_001287174.3:c.3506T>G NP_001274103.1:p.Leu1169Trp