Canonical Allele Identifier: CA388725593

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110210145C>G , CM000675.2:g.110210145C>G	GRCh38
NC_000013.10:g.110862492C>G , CM000675.1:g.110862492C>G	GRCh37
NC_000013.9:g.109660493C>G	NCBI36
NG_011544.2:g.102005G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.536G>C MANE Select	NP_001836.3:p.Gly179Ala
ENST00000375820.10:c.536G>C MANE Select	ENSP00000364979.4:p.Gly179Ala
NM_001303110.1:c.536G>C	NP_001290039.1:p.Gly179Ala
NM_001303110.2:c.536G>C	NP_001290039.1:p.Gly179Ala
NM_001845.5:c.536G>C	NP_001836.3:p.Gly179Ala
ENST00000375820.8:c.536G>C	ENSP00000364979.4:p.Gly179Ala
ENST00000543140.5:c.536G>C	ENSP00000443348.1:p.Gly179Ala
ENST00000543140.6:c.536G>C	ENSP00000443348.1:p.Gly179Ala
ENST00000615732.1:c.344G>C	ENSP00000478222.1:p.Gly115Ala
ENST00000615732.2:c.344G>C	ENSP00000478222.2:p.Gly115Ala
ENST00000647632.1:n.169G>C
ENST00000647797.1:c.415G>C
ENST00000648170.1:n.1104G>C
ENST00000648966.1:c.415G>C
ENST00000649484.1:c.415G>C
ENST00000649738.1:n.666G>C
XM_011521048.1:c.344G>C	XP_011519350.1:p.Gly115Ala
XM_011521048.2:c.344G>C	XP_011519350.1:p.Gly115Ala