Canonical Allele Identifier: CA388723397
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110192255C>A , CM000675.2:g.110192255C>A GRCh38
NC_000013.10:g.110844602C>A , CM000675.1:g.110844602C>A GRCh37
NC_000013.9:g.109642603C>A NCBI36
NG_011544.2:g.119895G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.1495G>T MANE Select ENSP00000364979.4:p.Asp499Tyr
ENST00000543140.6:c.1495G>T ENSP00000443348.1:p.Asp499Tyr
ENST00000649738.1:n.1625G>T
ENST00000375820.8:c.1495G>T ENSP00000364979.4:p.Asp499Tyr
ENST00000543140.5:c.1495G>T ENSP00000443348.1:p.Asp499Tyr
NM_001303110.1:c.1495G>T NP_001290039.1:p.Asp499Tyr
NM_001845.5:c.1495G>T NP_001836.3:p.Asp499Tyr
XM_011521048.1:c.1303G>T XP_011519350.1:p.Asp435Tyr
XM_011521048.2:c.1303G>T XP_011519350.1:p.Asp435Tyr
NM_001845.6:c.1495G>T MANE Select NP_001836.3:p.Asp499Tyr
NM_001303110.2:c.1495G>T NP_001290039.1:p.Asp499Tyr