Canonical Allele Identifier: CA388725444

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110209988C>G , CM000675.2:g.110209988C>G	GRCh38
NC_000013.10:g.110862335C>G , CM000675.1:g.110862335C>G	GRCh37
NC_000013.9:g.109660336C>G	NCBI36
NG_011544.2:g.102162G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.607G>C MANE Select	NP_001836.3:p.Gly203Arg
ENST00000375820.10:c.607G>C MANE Select	ENSP00000364979.4:p.Gly203Arg
NM_001303110.1:c.607G>C	NP_001290039.1:p.Gly203Arg
NM_001303110.2:c.607G>C	NP_001290039.1:p.Gly203Arg
NM_001845.5:c.607G>C	NP_001836.3:p.Gly203Arg
ENST00000375820.8:c.607G>C	ENSP00000364979.4:p.Gly203Arg
ENST00000543140.5:c.607G>C	ENSP00000443348.1:p.Gly203Arg
ENST00000543140.6:c.607G>C	ENSP00000443348.1:p.Gly203Arg
ENST00000615732.1:c.415G>C	ENSP00000478222.1:p.Gly139Arg
ENST00000615732.2:c.415G>C	ENSP00000478222.2:p.Gly139Arg
ENST00000647632.1:n.240G>C
ENST00000647797.1:c.486G>C
ENST00000648170.1:n.1175G>C
ENST00000648966.1:c.486G>C
ENST00000649484.1:c.572G>C
ENST00000649738.1:n.737G>C
XM_011521048.1:c.415G>C	XP_011519350.1:p.Gly139Arg
XM_011521048.2:c.415G>C	XP_011519350.1:p.Gly139Arg