Canonical Allele Identifier: CA388723399

Gene: COL4A1

Linked Data

• MyVariant Identifiers: chr13:g.110844604C>G (hg19) ; chr13:g.110192257C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192257C>G , CM000675.2:g.110192257C>G	GRCh38
NC_000013.10:g.110844604C>G , CM000675.1:g.110844604C>G	GRCh37
NC_000013.9:g.109642605C>G	NCBI36
NG_011544.2:g.119893G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1493G>C MANE Select	ENSP00000364979.4:p.Gly498Ala
ENST00000543140.6:c.1493G>C	ENSP00000443348.1:p.Gly498Ala
ENST00000649738.1:n.1623G>C
ENST00000375820.8:c.1493G>C	ENSP00000364979.4:p.Gly498Ala
ENST00000543140.5:c.1493G>C	ENSP00000443348.1:p.Gly498Ala
NM_001303110.1:c.1493G>C	NP_001290039.1:p.Gly498Ala
NM_001845.5:c.1493G>C	NP_001836.3:p.Gly498Ala
XM_011521048.1:c.1301G>C	XP_011519350.1:p.Gly434Ala
XM_011521048.2:c.1301G>C	XP_011519350.1:p.Gly434Ala
NM_001845.6:c.1493G>C MANE Select	NP_001836.3:p.Gly498Ala
NM_001303110.2:c.1493G>C	NP_001290039.1:p.Gly498Ala