Canonical Allele Identifier: CA388731341

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110242674C>T , CM000675.2:g.110242674C>T	GRCh38
NC_000013.10:g.110895021C>T , CM000675.1:g.110895021C>T	GRCh37
NC_000013.9:g.109693022C>T	NCBI36
NG_011544.2:g.69476G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.144+1G>A MANE Select	NP_001836.3:n.144+1G>A
ENST00000375820.10:c.144+1G>A MANE Select	ENSP00000364979.4:n.144+1G>A
NM_001303110.1:c.144+1G>A	NP_001290039.1:n.144+1G>A
NM_001303110.2:c.144+1G>A	NP_001290039.1:n.144+1G>A
NM_001845.5:c.144+1G>A	NP_001836.3:n.144+1G>A
ENST00000375820.8:c.144+1G>A	ENSP00000364979.4:n.144+1G>A
ENST00000543140.5:c.144+1G>A	ENSP00000443348.1:n.144+1G>A
ENST00000543140.6:c.144+1G>A	ENSP00000443348.1:n.144+1G>A
ENST00000615732.1:c.-52G>A	ENSP00000478222.1:n.-52G>A
ENST00000615732.2:c.-49+1G>A	ENSP00000478222.2:n.-49+1G>A
ENST00000647797.1:c.23+1G>A
ENST00000648170.1:n.23+1G>A
ENST00000648695.1:c.24G>A
ENST00000648966.1:c.23+1G>A
ENST00000648989.1:c.20+1G>A
ENST00000649484.1:c.23+1G>A
ENST00000649738.1:n.274+1G>A
ENST00000650115.1:c.24+1G>A	ENSP00000498030.1:n.24+1G>A
ENST00000650566.1:c.24+1G>A	ENSP00000498007.1:n.24+1G>A
XM_011521048.1:c.-49+1G>A	XP_011519350.1:n.-49+1G>A
XM_011521048.2:c.-49+1G>A	XP_011519350.1:n.-49+1G>A