Canonical Allele Identifier: CA388723449

Gene: COL4A1

Linked Data

• MyVariant Identifiers: chr13:g.110844628A>C (hg19) ; chr13:g.110192281A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192281A>C , CM000675.2:g.110192281A>C	GRCh38
NC_000013.10:g.110844628A>C , CM000675.1:g.110844628A>C	GRCh37
NC_000013.9:g.109642629A>C	NCBI36
NG_011544.2:g.119869T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1469T>G MANE Select	ENSP00000364979.4:p.Phe490Cys
ENST00000543140.6:c.1469T>G	ENSP00000443348.1:p.Phe490Cys
ENST00000649738.1:n.1599T>G
ENST00000375820.8:c.1469T>G	ENSP00000364979.4:p.Phe490Cys
ENST00000543140.5:c.1469T>G	ENSP00000443348.1:p.Phe490Cys
NM_001303110.1:c.1469T>G	NP_001290039.1:p.Phe490Cys
NM_001845.5:c.1469T>G	NP_001836.3:p.Phe490Cys
XM_011521048.1:c.1277T>G	XP_011519350.1:p.Phe426Cys
XM_011521048.2:c.1277T>G	XP_011519350.1:p.Phe426Cys
NM_001845.6:c.1469T>G MANE Select	NP_001836.3:p.Phe490Cys
NM_001303110.2:c.1469T>G	NP_001290039.1:p.Phe490Cys