Canonical Allele Identifier: CA7047907

Gene: COL4A1

Linked Data

• dbSNP Id: rs755983132
• ExAC: 13:110844624 T / G
• gnomAD v2: 13-110844624-T-G
• gnomAD v4: 13-110192277-T-G
• MyVariant Identifiers: chr13:g.110844624T>G (hg19) ; chr13:g.110192277T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192277T>G , CM000675.2:g.110192277T>G	GRCh38
NC_000013.10:g.110844624T>G , CM000675.1:g.110844624T>G	GRCh37
NC_000013.9:g.109642625T>G	NCBI36
NG_011544.2:g.119873A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1473A>C MANE Select	ENSP00000364979.4:p.Pro491=
ENST00000543140.6:c.1473A>C	ENSP00000443348.1:p.Pro491=
ENST00000649738.1:n.1603A>C
ENST00000375820.8:c.1473A>C	ENSP00000364979.4:p.Pro491=
ENST00000543140.5:c.1473A>C	ENSP00000443348.1:p.Pro491=
NM_001303110.1:c.1473A>C	NP_001290039.1:p.Pro491=
NM_001845.5:c.1473A>C	NP_001836.3:p.Pro491=
XM_011521048.1:c.1281A>C	XP_011519350.1:p.Pro427=
XM_011521048.2:c.1281A>C	XP_011519350.1:p.Pro427=
NM_001845.6:c.1473A>C MANE Select	NP_001836.3:p.Pro491=
NM_001303110.2:c.1473A>C	NP_001290039.1:p.Pro491=