Canonical Allele Identifier: CA960177387

Gene: COL4A1

Linked Data

• dbSNP Id: rs1879439705
• gnomAD v3: 13-110205281-G-A
• gnomAD v4: 13-110205281-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110205281G>A , CM000675.2:g.110205281G>A	GRCh38
NC_000013.10:g.110857628G>A , CM000675.1:g.110857628G>A	GRCh37
NC_000013.9:g.109655629G>A	NCBI36
NG_011544.2:g.106869C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.957+72C>T MANE Select	ENSP00000364979.4:n.957+72C>T
ENST00000543140.6:c.957+72C>T	ENSP00000443348.1:n.957+72C>T
ENST00000647632.1:n.662C>T
ENST00000647797.1:c.836+72C>T
ENST00000649738.1:n.1087+72C>T
ENST00000375820.8:c.957+72C>T	ENSP00000364979.4:n.957+72C>T
ENST00000543140.5:c.957+72C>T	ENSP00000443348.1:n.957+72C>T
NM_001303110.1:c.957+72C>T	NP_001290039.1:n.957+72C>T
NM_001845.5:c.957+72C>T	NP_001836.3:n.957+72C>T
XM_011521048.1:c.765+72C>T	XP_011519350.1:n.765+72C>T
XM_011521048.2:c.765+72C>T	XP_011519350.1:n.765+72C>T
NM_001845.6:c.957+72C>T MANE Select	NP_001836.3:n.957+72C>T
NM_001303110.2:c.957+72C>T	NP_001290039.1:n.957+72C>T