Canonical Allele Identifier: CA388723397

Gene: COL4A1

Linked Data

• COSMIC: COSM3369013 ; COSM3369014
• MyVariant Identifiers: chr13:g.110844602C>A (hg19) ; chr13:g.110192255C>A (hg38)

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