Canonical Allele Identifier: CA388731390

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110242683C>G , CM000675.2:g.110242683C>G	GRCh38
NC_000013.10:g.110895030C>G , CM000675.1:g.110895030C>G	GRCh37
NC_000013.9:g.109693031C>G	NCBI36
NG_011544.2:g.69467G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.136G>C MANE Select	NP_001836.3:p.Gly46Arg
ENST00000375820.10:c.136G>C MANE Select	ENSP00000364979.4:p.Gly46Arg
NM_001303110.1:c.136G>C	NP_001290039.1:p.Gly46Arg
NM_001303110.2:c.136G>C	NP_001290039.1:p.Gly46Arg
NM_001845.5:c.136G>C	NP_001836.3:p.Gly46Arg
ENST00000375820.8:c.136G>C	ENSP00000364979.4:p.Gly46Arg
ENST00000543140.5:c.136G>C	ENSP00000443348.1:p.Gly46Arg
ENST00000543140.6:c.136G>C	ENSP00000443348.1:p.Gly46Arg
ENST00000615732.1:c.-61G>C	ENSP00000478222.1:n.-61G>C
ENST00000615732.2:c.-57G>C	ENSP00000478222.2:n.-57G>C
ENST00000647797.1:c.15G>C
ENST00000648170.1:n.15G>C
ENST00000648695.1:c.15G>C
ENST00000648966.1:c.15G>C
ENST00000648989.1:c.12G>C
ENST00000649484.1:c.15G>C
ENST00000649738.1:n.266G>C
ENST00000650115.1:c.16G>C	ENSP00000498030.1:p.Gly6Arg
ENST00000650566.1:c.16G>C	ENSP00000498007.1:p.Gly6Arg
XM_011521048.1:c.-57G>C	XP_011519350.1:n.-57G>C
XM_011521048.2:c.-57G>C	XP_011519350.1:n.-57G>C