Canonical Allele Identifier: CA218417264

Gene: ABCC8

Linked Data

• dbSNP Id: rs199626046
• gnomAD v2: 11-17426101-A-G
• gnomAD v4: 11-17404554-A-G
• MyVariant Identifiers: chr11:g.17426101A>G (hg19) ; chr11:g.17404554A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404554A>G , CM000673.2:g.17404554A>G	GRCh38
NC_000011.9:g.17426101A>G , CM000673.1:g.17426101A>G	GRCh37
NC_000011.8:g.17382677A>G	NCBI36
NG_008867.1:g.77349T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3084T>C
ENST00000528374.2:c.94T>C
ENST00000529967.6:n.1854T>C
ENST00000532220.2:n.1247T>C
ENST00000642611.2:n.3584T>C
ENST00000645004.2:n.1014T>C
ENST00000682051.1:n.3531T>C
ENST00000682110.1:n.3584T>C
ENST00000682140.1:c.3512T>C	ENSP00000507829.1:p.Ile1171Thr
ENST00000682185.1:n.4820T>C
ENST00000682204.1:c.*1653T>C	ENSP00000507094.1:n.*1653T>C
ENST00000682215.1:n.3581T>C
ENST00000682288.1:c.*1946T>C	ENSP00000507506.1:n.*1946T>C
ENST00000682442.1:n.3804T>C
ENST00000682528.1:n.3661T>C
ENST00000682673.1:n.3528T>C
ENST00000682805.1:n.3581T>C
ENST00000682965.1:c.3396+940T>C	ENSP00000508229.1:n.3396+940T>C
ENST00000683093.1:n.3683T>C
ENST00000683136.1:c.3512T>C	ENSP00000507768.1:p.Ile1171Thr
ENST00000683153.1:n.3740T>C
ENST00000683365.1:n.3686T>C
ENST00000683377.1:n.3584T>C
ENST00000683456.1:c.*652T>C	ENSP00000508318.1:n.*652T>C
ENST00000683522.1:n.3584T>C
ENST00000683562.1:c.*1684T>C	ENSP00000508265.1:n.*1684T>C
ENST00000683693.1:n.3661T>C
ENST00000683725.1:c.3515T>C	ENSP00000507496.1:p.Ile1172Thr
ENST00000684010.1:n.3579T>C
ENST00000684157.1:n.3584T>C
ENST00000684253.1:n.3487T>C
ENST00000684288.1:c.*1687T>C	ENSP00000507143.1:n.*1687T>C
ENST00000684313.1:n.3016T>C
ENST00000684332.1:n.3657T>C
ENST00000684371.1:n.3690T>C
ENST00000684404.1:n.3627T>C
ENST00000684442.1:n.3584T>C
ENST00000684555.1:c.*1727T>C	ENSP00000507705.1:n.*1727T>C
ENST00000684571.1:c.3356T>C	ENSP00000506935.1:p.Ile1119Thr
ENST00000684593.1:c.*3220T>C	ENSP00000507005.1:n.*3220T>C
ENST00000684711.1:c.*1911T>C	ENSP00000506841.1:n.*1911T>C
ENST00000302539.9:c.3518T>C	ENSP00000303960.4:p.Ile1173Thr
ENST00000389817.8:c.3515T>C MANE Select	ENSP00000374467.4:p.Ile1172Thr
ENST00000642271.1:c.3512T>C	ENSP00000493749.1:p.Ile1171Thr
ENST00000642579.1:c.1599T>C
ENST00000642611.1:n.3469T>C
ENST00000642902.1:c.3297T>C
ENST00000643260.1:c.3515T>C	ENSP00000494450.1:p.Ile1172Thr
ENST00000643562.1:c.*1491T>C	ENSP00000496124.1:n.*1491T>C
ENST00000643925.1:c.1639T>C
ENST00000644447.1:c.1871T>C	ENSP00000496282.1:p.Ile624Thr
ENST00000644484.1:c.*1770T>C	ENSP00000493558.1:n.*1770T>C
ENST00000644675.1:c.*1687T>C	ENSP00000494567.1:n.*1687T>C
ENST00000644757.1:c.*1800T>C	ENSP00000495085.1:n.*1800T>C
ENST00000644772.1:c.3581T>C	ENSP00000494321.1:p.Ile1194Thr
ENST00000645004.1:n.654T>C
ENST00000645076.1:c.2714T>C
ENST00000645417.1:c.681T>C
ENST00000645744.1:c.*1779T>C	ENSP00000494564.1:n.*1779T>C
ENST00000645760.1:c.3790T>C
ENST00000645884.1:c.*652T>C	ENSP00000495516.1:n.*652T>C
ENST00000646003.1:c.*1471T>C	ENSP00000495259.1:n.*1471T>C
ENST00000646207.1:c.*1982T>C	ENSP00000495025.1:n.*1982T>C
ENST00000646276.1:c.*1788T>C	ENSP00000496070.1:n.*1788T>C
ENST00000646592.1:c.2821T>C
ENST00000646902.1:c.3512T>C	ENSP00000494101.1:p.Ile1171Thr
ENST00000646993.1:c.*1911T>C	ENSP00000493720.1:n.*1911T>C
ENST00000647013.1:c.3521T>C	ENSP00000496741.1:n.3521T>C
ENST00000647015.1:c.3266T>C	ENSP00000495389.1:p.Ile1089Thr
ENST00000647086.1:c.*3245T>C	ENSP00000493677.1:n.*3245T>C
ENST00000647158.1:c.*1656T>C	ENSP00000495744.1:n.*1656T>C
ENST00000302539.8:c.3518T>C	ENSP00000303960.4:p.Ile1173Thr
ENST00000389817.7:c.3515T>C	ENSP00000374467.3:p.Ile1172Thr
ENST00000524561.1:n.647T>C
ENST00000527905.5:c.*391T>C	ENSP00000431653.1:n.*391T>C
ENST00000531137.1:n.8T>C
NM_000352.4:c.3515T>C	NP_000343.2:p.Ile1172Thr
NM_001287174.1:c.3518T>C	NP_001274103.1:p.Ile1173Thr
XM_011520331.1:c.3515T>C	XP_011518633.1:p.Ile1172Thr
XM_011520332.1:c.3518T>C	XP_011518634.1:p.Ile1173Thr
XM_011520333.1:c.2015T>C	XP_011518635.1:p.Ile672Thr
XR_930890.1:n.3581T>C
XR_930892.1:n.3481T>C
XR_930893.1:n.3478T>C
NM_001351295.1:c.3581T>C	NP_001338224.1:p.Ile1194Thr
NM_001351296.1:c.3515T>C	NP_001338225.1:p.Ile1172Thr
NM_001351297.1:c.3512T>C	NP_001338226.1:p.Ile1171Thr
NR_147094.1:n.3664T>C
XM_017018197.2:c.3584T>C	XP_016873686.1:p.Ile1195Thr
XM_017018199.1:c.3581T>C	XP_016873688.1:p.Ile1194Thr
XM_017018201.2:c.3584T>C	XP_016873690.1:p.Ile1195Thr
XM_017018202.1:c.2081T>C	XP_016873691.1:p.Ile694Thr
XM_017018204.1:c.1472T>C	XP_016873693.1:p.Ile491Thr
XM_024448668.1:c.1883T>C	XP_024304436.1:p.Ile628Thr
XR_001747945.2:n.3656T>C
XR_001747946.2:n.3587T>C
XR_002957189.1:n.3736T>C
NM_000352.6:c.3515T>C MANE Select	NP_000343.2:p.Ile1172Thr
NM_001287174.2:c.3518T>C	NP_001274103.1:p.Ile1173Thr
NM_001351295.2:c.3581T>C	NP_001338224.1:p.Ile1194Thr
NM_001351296.2:c.3515T>C	NP_001338225.1:p.Ile1172Thr
NM_001351297.2:c.3512T>C	NP_001338226.1:p.Ile1171Thr
NR_147094.2:n.3664T>C
NM_001287174.3:c.3518T>C	NP_001274103.1:p.Ile1173Thr