Canonical Allele Identifier: CA388723373

Gene: COL4A1

Linked Data

• MyVariant Identifiers: chr13:g.110844591C>G (hg19) ; chr13:g.110192244C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192244C>G , CM000675.2:g.110192244C>G	GRCh38
NC_000013.10:g.110844591C>G , CM000675.1:g.110844591C>G	GRCh37
NC_000013.9:g.109642592C>G	NCBI36
NG_011544.2:g.119906G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1506G>C MANE Select	ENSP00000364979.4:p.Leu502Phe
ENST00000543140.6:c.1506G>C	ENSP00000443348.1:p.Leu502Phe
ENST00000649738.1:n.1636G>C
ENST00000375820.8:c.1506G>C	ENSP00000364979.4:p.Leu502Phe
ENST00000543140.5:c.1506G>C	ENSP00000443348.1:p.Leu502Phe
NM_001303110.1:c.1506G>C	NP_001290039.1:p.Leu502Phe
NM_001845.5:c.1506G>C	NP_001836.3:p.Leu502Phe
XM_011521048.1:c.1314G>C	XP_011519350.1:p.Leu438Phe
XM_011521048.2:c.1314G>C	XP_011519350.1:p.Leu438Phe
NM_001845.6:c.1506G>C MANE Select	NP_001836.3:p.Leu502Phe
NM_001303110.2:c.1506G>C	NP_001290039.1:p.Leu502Phe