Canonical Allele Identifier: CA379801296

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428196A>G (hg19) ; chr11:g.17406649A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406649A>G , CM000673.2:g.17406649A>G	GRCh38
NC_000011.9:g.17428196A>G , CM000673.1:g.17428196A>G	GRCh37
NC_000011.8:g.17384772A>G	NCBI36
NG_008867.1:g.75254T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2871T>C
ENST00000529967.6:n.1641T>C
ENST00000532220.2:n.1034T>C
ENST00000642611.2:n.3371T>C
ENST00000645004.2:n.801T>C
ENST00000682051.1:n.3318T>C
ENST00000682110.1:n.3371T>C
ENST00000682140.1:c.3299T>C	ENSP00000507829.1:p.Leu1100Pro
ENST00000682185.1:n.4607T>C
ENST00000682204.1:c.*1440T>C	ENSP00000507094.1:n.*1440T>C
ENST00000682215.1:n.3368T>C
ENST00000682288.1:c.*1733T>C	ENSP00000507506.1:n.*1733T>C
ENST00000682442.1:n.3591T>C
ENST00000682528.1:n.3448T>C
ENST00000682673.1:n.3315T>C
ENST00000682805.1:n.3368T>C
ENST00000682965.1:c.3299T>C	ENSP00000508229.1:p.Leu1100Pro
ENST00000683093.1:n.3470T>C
ENST00000683136.1:c.3299T>C	ENSP00000507768.1:p.Leu1100Pro
ENST00000683153.1:n.3527T>C
ENST00000683365.1:n.3473T>C
ENST00000683377.1:n.3371T>C
ENST00000683456.1:c.*439T>C	ENSP00000508318.1:n.*439T>C
ENST00000683522.1:n.3371T>C
ENST00000683562.1:c.*1471T>C	ENSP00000508265.1:n.*1471T>C
ENST00000683693.1:n.3448T>C
ENST00000683725.1:c.3302T>C	ENSP00000507496.1:p.Leu1101Pro
ENST00000684010.1:n.3366T>C
ENST00000684157.1:n.3371T>C
ENST00000684253.1:n.3274T>C
ENST00000684288.1:c.*1474T>C	ENSP00000507143.1:n.*1474T>C
ENST00000684313.1:n.2803T>C
ENST00000684332.1:n.3444T>C
ENST00000684371.1:n.3477T>C
ENST00000684404.1:n.3414T>C
ENST00000684442.1:n.3371T>C
ENST00000684555.1:c.*1514T>C	ENSP00000507705.1:n.*1514T>C
ENST00000684571.1:c.3143T>C	ENSP00000506935.1:p.Leu1048Pro
ENST00000684593.1:c.*3007T>C	ENSP00000507005.1:n.*3007T>C
ENST00000684711.1:c.*1698T>C	ENSP00000506841.1:n.*1698T>C
ENST00000302539.9:c.3305T>C	ENSP00000303960.4:p.Leu1102Pro
ENST00000389817.8:c.3302T>C MANE Select	ENSP00000374467.4:p.Leu1101Pro
ENST00000642271.1:c.3299T>C	ENSP00000493749.1:p.Leu1100Pro
ENST00000642579.1:c.1386T>C
ENST00000642611.1:n.3256T>C
ENST00000642902.1:c.3084T>C
ENST00000643260.1:c.3302T>C	ENSP00000494450.1:p.Leu1101Pro
ENST00000643562.1:c.*1278T>C	ENSP00000496124.1:n.*1278T>C
ENST00000643925.1:c.1426T>C
ENST00000644447.1:c.1658T>C	ENSP00000496282.1:p.Leu553Pro
ENST00000644484.1:c.*1557T>C	ENSP00000493558.1:n.*1557T>C
ENST00000644542.1:c.*3106T>C	ENSP00000495532.1:n.*3106T>C
ENST00000644675.1:c.*1474T>C	ENSP00000494567.1:n.*1474T>C
ENST00000644757.1:c.*1587T>C	ENSP00000495085.1:n.*1587T>C
ENST00000644772.1:c.3368T>C	ENSP00000494321.1:p.Leu1123Pro
ENST00000645004.1:n.441T>C
ENST00000645076.1:c.2501T>C
ENST00000645417.1:c.468T>C
ENST00000645744.1:c.*1566T>C	ENSP00000494564.1:n.*1566T>C
ENST00000645760.1:c.3577T>C
ENST00000645884.1:c.*439T>C	ENSP00000495516.1:n.*439T>C
ENST00000646003.1:c.*1258T>C	ENSP00000495259.1:n.*1258T>C
ENST00000646207.1:c.*1769T>C	ENSP00000495025.1:n.*1769T>C
ENST00000646276.1:c.*1575T>C	ENSP00000496070.1:n.*1575T>C
ENST00000646592.1:c.2608T>C
ENST00000646902.1:c.3299T>C	ENSP00000494101.1:p.Leu1100Pro
ENST00000646993.1:c.*1698T>C	ENSP00000493720.1:n.*1698T>C
ENST00000647013.1:c.3308T>C	ENSP00000496741.1:n.3308T>C
ENST00000647015.1:c.3053T>C	ENSP00000495389.1:p.Leu1018Pro
ENST00000647086.1:c.*3032T>C	ENSP00000493677.1:n.*3032T>C
ENST00000647158.1:c.*1443T>C	ENSP00000495744.1:n.*1443T>C
ENST00000302539.8:c.3305T>C	ENSP00000303960.4:p.Leu1102Pro
ENST00000389817.7:c.3302T>C	ENSP00000374467.3:p.Leu1101Pro
ENST00000524561.1:n.434T>C
ENST00000527905.5:c.*178T>C	ENSP00000431653.1:n.*178T>C
NM_000352.4:c.3302T>C	NP_000343.2:p.Leu1101Pro
NM_001287174.1:c.3305T>C	NP_001274103.1:p.Leu1102Pro
XM_011520331.1:c.3302T>C	XP_011518633.1:p.Leu1101Pro
XM_011520332.1:c.3305T>C	XP_011518634.1:p.Leu1102Pro
XM_011520333.1:c.1802T>C	XP_011518635.1:p.Leu601Pro
XR_930890.1:n.3368T>C
XR_930891.1:n.3368T>C
XR_930892.1:n.3268T>C
XR_930893.1:n.3265T>C
NM_001351295.1:c.3368T>C	NP_001338224.1:p.Leu1123Pro
NM_001351296.1:c.3302T>C	NP_001338225.1:p.Leu1101Pro
NM_001351297.1:c.3299T>C	NP_001338226.1:p.Leu1100Pro
NR_147094.1:n.3451T>C
XM_017018197.2:c.3371T>C	XP_016873686.1:p.Leu1124Pro
XM_017018199.1:c.3368T>C	XP_016873688.1:p.Leu1123Pro
XM_017018201.2:c.3371T>C	XP_016873690.1:p.Leu1124Pro
XM_017018202.1:c.1868T>C	XP_016873691.1:p.Leu623Pro
XM_017018204.1:c.1259T>C	XP_016873693.1:p.Leu420Pro
XM_024448668.1:c.1670T>C	XP_024304436.1:p.Leu557Pro
XR_001747945.2:n.3443T>C
XR_001747946.2:n.3374T>C
XR_002957189.1:n.3523T>C
NM_000352.6:c.3302T>C MANE Select	NP_000343.2:p.Leu1101Pro
NM_001287174.2:c.3305T>C	NP_001274103.1:p.Leu1102Pro
NM_001351295.2:c.3368T>C	NP_001338224.1:p.Leu1123Pro
NM_001351296.2:c.3302T>C	NP_001338225.1:p.Leu1101Pro
NM_001351297.2:c.3299T>C	NP_001338226.1:p.Leu1100Pro
NR_147094.2:n.3451T>C
NM_001287174.3:c.3305T>C	NP_001274103.1:p.Leu1102Pro