Canonical Allele Identifier: CA960160070

Gene: COL4A1

Linked Data

• dbSNP Id: rs1728352699
• gnomAD v3: 13-110169980-AC-A
• gnomAD v4: 13-110169980-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169982del , CM000675.2:g.110169982del	GRCh38
NC_000013.10:g.110822329del , CM000675.1:g.110822329del	GRCh37
NC_000013.9:g.109620330del	NCBI36
NG_011544.2:g.142169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-219del MANE Select	ENSP00000364979.4:n.3743-219del
ENST00000375820.8:c.3743-219del	ENSP00000364979.4:n.3743-219del
NM_001845.5:c.3743-219del	NP_001836.3:n.3743-219del
XM_011521048.1:c.3551-219del	XP_011519350.1:n.3551-219del
XM_011521048.2:c.3551-219del	XP_011519350.1:n.3551-219del
NM_001845.6:c.3743-219del MANE Select	NP_001836.3:n.3743-219del