Canonical Allele Identifier: CA2623676777

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110212521-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212521G>T , CM000675.2:g.110212521G>T	GRCh38
NC_000013.10:g.110864868G>T , CM000675.1:g.110864868G>T	GRCh37
NC_000013.9:g.109662869G>T	NCBI36
NG_011544.2:g.99629C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.325-42C>A MANE Select	ENSP00000364979.4:n.325-42C>A
ENST00000543140.6:c.325-42C>A	ENSP00000443348.1:n.325-42C>A
ENST00000615732.2:c.133-42C>A	ENSP00000478222.2:n.133-42C>A
ENST00000647797.1:c.204-42C>A
ENST00000648170.1:n.204-42C>A
ENST00000648966.1:c.204-42C>A
ENST00000649484.1:c.204-42C>A
ENST00000649738.1:n.455-42C>A
ENST00000650138.1:n.14-42C>A
ENST00000375820.8:c.325-42C>A	ENSP00000364979.4:n.325-42C>A
ENST00000543140.5:c.325-42C>A	ENSP00000443348.1:n.325-42C>A
ENST00000615732.1:c.133-42C>A	ENSP00000478222.1:n.133-42C>A
NM_001303110.1:c.325-42C>A	NP_001290039.1:n.325-42C>A
NM_001845.5:c.325-42C>A	NP_001836.3:n.325-42C>A
XM_011521048.1:c.133-42C>A	XP_011519350.1:n.133-42C>A
XM_011521048.2:c.133-42C>A	XP_011519350.1:n.133-42C>A
NM_001845.6:c.325-42C>A MANE Select	NP_001836.3:n.325-42C>A
NM_001303110.2:c.325-42C>A	NP_001290039.1:n.325-42C>A