Canonical Allele Identifier: CA388726583

Gene: COL4A1

Linked Data

• dbSNP Id: rs1879863944
• MyVariant Identifiers: chr13:g.110864940G>T (hg19) ; chr13:g.110212593G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212593G>T , CM000675.2:g.110212593G>T	GRCh38
NC_000013.10:g.110864940G>T , CM000675.1:g.110864940G>T	GRCh37
NC_000013.9:g.109662941G>T	NCBI36
NG_011544.2:g.99557C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.305C>A MANE Select	ENSP00000364979.4:p.Pro102His
ENST00000543140.6:c.305C>A	ENSP00000443348.1:p.Pro102His
ENST00000615732.2:c.113C>A	ENSP00000478222.2:p.Pro38His
ENST00000647797.1:c.184C>A
ENST00000648170.1:n.184C>A
ENST00000648966.1:c.184C>A
ENST00000649484.1:c.184C>A
ENST00000649738.1:n.435C>A
ENST00000375820.8:c.305C>A	ENSP00000364979.4:p.Pro102His
ENST00000543140.5:c.305C>A	ENSP00000443348.1:p.Pro102His
ENST00000615732.1:c.113C>A	ENSP00000478222.1:p.Pro38His
NM_001303110.1:c.305C>A	NP_001290039.1:p.Pro102His
NM_001845.5:c.305C>A	NP_001836.3:p.Pro102His
XM_011521048.1:c.113C>A	XP_011519350.1:p.Pro38His
XM_011521048.2:c.113C>A	XP_011519350.1:p.Pro38His
NM_001845.6:c.305C>A MANE Select	NP_001836.3:p.Pro102His
NM_001303110.2:c.305C>A	NP_001290039.1:p.Pro102His