Canonical Allele Identifier: CA388723410

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110192263-G-A
• COSMIC: COSM3764452 ; COSM3764453
• MyVariant Identifiers: chr13:g.110844610G>A (hg19) ; chr13:g.110192263G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192263G>A , CM000675.2:g.110192263G>A	GRCh38
NC_000013.10:g.110844610G>A , CM000675.1:g.110844610G>A	GRCh37
NC_000013.9:g.109642611G>A	NCBI36
NG_011544.2:g.119887C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1487C>T MANE Select	ENSP00000364979.4:p.Ala496Val
ENST00000543140.6:c.1487C>T	ENSP00000443348.1:p.Ala496Val
ENST00000649738.1:n.1617C>T
ENST00000375820.8:c.1487C>T	ENSP00000364979.4:p.Ala496Val
ENST00000543140.5:c.1487C>T	ENSP00000443348.1:p.Ala496Val
NM_001303110.1:c.1487C>T	NP_001290039.1:p.Ala496Val
NM_001845.5:c.1487C>T	NP_001836.3:p.Ala496Val
XM_011521048.1:c.1295C>T	XP_011519350.1:p.Ala432Val
XM_011521048.2:c.1295C>T	XP_011519350.1:p.Ala432Val
NM_001845.6:c.1487C>T MANE Select	NP_001836.3:p.Ala496Val
NM_001303110.2:c.1487C>T	NP_001290039.1:p.Ala496Val