Canonical Allele Identifier: CA388400279
Gene: ABCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.95170594T>G , CM000675.2:g.95170594T>G GRCh38
NC_000013.10:g.95822848T>G , CM000675.1:g.95822848T>G GRCh37
NC_000013.9:g.94620849T>G NCBI36
NG_050651.1:g.135853A>C
NG_050651.2:g.135853A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642524.1:c.*1795A>C ENSP00000493766.1:n.*1795A>C
ENST00000643051.1:c.1762A>C ENSP00000495513.1:p.Ile588Leu
ENST00000643556.1:c.1903A>C ENSP00000494938.1:n.1903A>C
ENST00000643816.1:n.2045A>C
ENST00000643842.1:c.*1808A>C ENSP00000493861.1:n.*1808A>C
ENST00000644471.1:n.1853A>C
ENST00000645237.2:c.1762A>C MANE Select ENSP00000494609.1:p.Ile588Leu
ENST00000645532.1:c.1801A>C ENSP00000494431.1:p.Ile601Leu
ENST00000646439.1:c.1762A>C ENSP00000494751.1:p.Ile588Leu
ENST00000376887.8:c.1762A>C ENSP00000366084.4:p.Ile588Leu
ENST00000536256.3:c.1537A>C ENSP00000442024.1:p.Ile513Leu
ENST00000629385.1:c.1762A>C ENSP00000487081.1:p.Ile588Leu
NM_001105515.2:c.1762A>C NP_001098985.1:p.Ile588Leu
NM_001301829.1:c.1762A>C NP_001288758.1:p.Ile588Leu
NM_001301830.1:c.1537A>C NP_001288759.1:p.Ile513Leu
NM_005845.4:c.1762A>C NP_005836.2:p.Ile588Leu
XM_005254025.2:c.1633A>C XP_005254082.1:p.Ile545Leu
XM_006719914.1:c.1672A>C XP_006719977.1:p.Ile558Leu
XM_011521047.1:c.1213A>C XP_011519349.1:p.Ile405Leu
XM_017020319.1:c.1633A>C XP_016875808.1:p.Ile545Leu
XM_017020320.2:c.1762A>C XP_016875809.1:p.Ile588Leu
XM_017020321.1:c.247A>C XP_016875810.1:p.Ile83Leu
XM_017020322.1:c.1633A>C XP_016875811.1:p.Ile545Leu
NM_001105515.3:c.1762A>C NP_001098985.1:p.Ile588Leu
NM_001301829.2:c.1762A>C NP_001288758.1:p.Ile588Leu
NM_001301830.2:c.1537A>C NP_001288759.1:p.Ile513Leu
NM_005845.5:c.1762A>C MANE Select NP_005836.2:p.Ile588Leu