Canonical Allele Identifier: CA960168315

Gene: COL4A1

Linked Data

• dbSNP Id: rs1878656287
• gnomAD v3: 13-110192139-C-CA
• gnomAD v4: 13-110192139-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192143dup , CM000675.2:g.110192143dup	GRCh38
NC_000013.10:g.110844490dup , CM000675.1:g.110844490dup	GRCh37
NC_000013.9:g.109642491dup	NCBI36
NG_011544.2:g.120010dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.1536+74dup MANE Select	ENSP00000364979.4:n.1536+74dup
ENST00000543140.6:c.1536+74dup	ENSP00000443348.1:n.1536+74dup
ENST00000649738.1:n.1666+74dup
ENST00000375820.8:c.1536+74dup	ENSP00000364979.4:n.1536+74dup
ENST00000543140.5:c.1536+74dup	ENSP00000443348.1:n.1536+74dup
NM_001303110.1:c.1536+74dup	NP_001290039.1:n.1536+74dup
NM_001845.5:c.1536+74dup	NP_001836.3:n.1536+74dup
XM_011521048.1:c.1344+74dup	XP_011519350.1:n.1344+74dup
XM_011521048.2:c.1344+74dup	XP_011519350.1:n.1344+74dup
NM_001845.6:c.1536+74dup MANE Select	NP_001836.3:n.1536+74dup
NM_001303110.2:c.1536+74dup	NP_001290039.1:n.1536+74dup