Canonical Allele Identifier: CA7048518

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110211880C>T , CM000675.2:g.110211880C>T	GRCh38
NC_000013.10:g.110864227C>T , CM000675.1:g.110864227C>T	GRCh37
NC_000013.9:g.109662228C>T	NCBI36
NG_011544.2:g.100270G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.430G>A MANE Select	NP_001836.3:p.Ala144Thr
ENST00000375820.10:c.430G>A MANE Select	ENSP00000364979.4:p.Ala144Thr
NM_001303110.1:c.430G>A	NP_001290039.1:p.Ala144Thr
NM_001303110.2:c.430G>A	NP_001290039.1:p.Ala144Thr
NM_001845.5:c.430G>A	NP_001836.3:p.Ala144Thr
ENST00000375820.8:c.430G>A	ENSP00000364979.4:p.Ala144Thr
ENST00000543140.5:c.430G>A	ENSP00000443348.1:p.Ala144Thr
ENST00000543140.6:c.430G>A	ENSP00000443348.1:p.Ala144Thr
ENST00000615732.1:c.238G>A	ENSP00000478222.1:p.Ala80Thr
ENST00000615732.2:c.238G>A	ENSP00000478222.2:p.Ala80Thr
ENST00000647632.1:n.63G>A
ENST00000647797.1:c.309G>A
ENST00000648170.1:n.803G>A
ENST00000648966.1:c.309G>A
ENST00000649484.1:c.309G>A
ENST00000649738.1:n.560G>A
ENST00000650138.1:n.119G>A
XM_011521048.1:c.238G>A	XP_011519350.1:p.Ala80Thr
XM_011521048.2:c.238G>A	XP_011519350.1:p.Ala80Thr