Canonical Allele Identifier: CA919358427

Gene: COL4A1

Linked Data

• dbSNP Id: rs1594543880
• gnomAD v3: 13-110170038-AGGGAAGGAGGGAGGAAGGAGGGGAGGGAGGAGGGGAGGGGAG-A
• gnomAD v4: 13-110170038-AGGGAAGGAGGGAGGAAGGAGGGGAGGGAGGAGGGGAGGGGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170053_110170094del , CM000675.2:g.110170053_110170094del	GRCh38
NC_000013.10:g.110822400_110822441del , CM000675.1:g.110822400_110822441del	GRCh37
NC_000013.9:g.109620401_109620442del	NCBI36
NG_011544.2:g.142070_142111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-318_3743-277del MANE Select	ENSP00000364979.4:n.3743-318_3743-277del
ENST00000375820.8:c.3743-318_3743-277del	ENSP00000364979.4:n.3743-318_3743-277del
NM_001845.5:c.3743-318_3743-277del	NP_001836.3:n.3743-318_3743-277del
XM_011521048.1:c.3551-318_3551-277del	XP_011519350.1:n.3551-318_3551-277del
XM_011521048.2:c.3551-318_3551-277del	XP_011519350.1:n.3551-318_3551-277del
NM_001845.6:c.3743-318_3743-277del MANE Select	NP_001836.3:n.3743-318_3743-277del