Canonical Allele Identifier: CA388723436

Gene: COL4A1

Linked Data

• MyVariant Identifiers: chr13:g.110844622C>A (hg19) ; chr13:g.110192275C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192275C>A , CM000675.2:g.110192275C>A	GRCh38
NC_000013.10:g.110844622C>A , CM000675.1:g.110844622C>A	GRCh37
NC_000013.9:g.109642623C>A	NCBI36
NG_011544.2:g.119875G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1475G>T MANE Select	ENSP00000364979.4:p.Gly492Val
ENST00000543140.6:c.1475G>T	ENSP00000443348.1:p.Gly492Val
ENST00000649738.1:n.1605G>T
ENST00000375820.8:c.1475G>T	ENSP00000364979.4:p.Gly492Val
ENST00000543140.5:c.1475G>T	ENSP00000443348.1:p.Gly492Val
NM_001303110.1:c.1475G>T	NP_001290039.1:p.Gly492Val
NM_001845.5:c.1475G>T	NP_001836.3:p.Gly492Val
XM_011521048.1:c.1283G>T	XP_011519350.1:p.Gly428Val
XM_011521048.2:c.1283G>T	XP_011519350.1:p.Gly428Val
NM_001845.6:c.1475G>T MANE Select	NP_001836.3:p.Gly492Val
NM_001303110.2:c.1475G>T	NP_001290039.1:p.Gly492Val