Canonical Allele Identifier: CA256245494

Gene: COL4A1

Linked Data

• dbSNP Id: rs768677927
• gnomAD v2: 13-110865003-C-T
• gnomAD v3: 13-110212656-C-T
• gnomAD v4: 13-110212656-C-T
• MyVariant Identifiers: chr13:g.110865003C>T (hg19) ; chr13:g.110212656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212656C>T , CM000675.2:g.110212656C>T	GRCh38
NC_000013.10:g.110865003C>T , CM000675.1:g.110865003C>T	GRCh37
NC_000013.9:g.109663004C>T	NCBI36
NG_011544.2:g.99494G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.280-38G>A MANE Select	ENSP00000364979.4:n.280-38G>A
ENST00000543140.6:c.280-38G>A	ENSP00000443348.1:n.280-38G>A
ENST00000615732.2:c.88-38G>A	ENSP00000478222.2:n.88-38G>A
ENST00000647797.1:c.159-38G>A
ENST00000648170.1:n.159-38G>A
ENST00000648966.1:c.159-38G>A
ENST00000649484.1:c.159-38G>A
ENST00000649738.1:n.410-38G>A
ENST00000375820.8:c.280-38G>A	ENSP00000364979.4:n.280-38G>A
ENST00000543140.5:c.280-38G>A	ENSP00000443348.1:n.280-38G>A
ENST00000615732.1:c.88-38G>A	ENSP00000478222.1:n.88-38G>A
NM_001303110.1:c.280-38G>A	NP_001290039.1:n.280-38G>A
NM_001845.5:c.280-38G>A	NP_001836.3:n.280-38G>A
XM_011521048.1:c.88-38G>A	XP_011519350.1:n.88-38G>A
XM_011521048.2:c.88-38G>A	XP_011519350.1:n.88-38G>A
NM_001845.6:c.280-38G>A MANE Select	NP_001836.3:n.280-38G>A
NM_001303110.2:c.280-38G>A	NP_001290039.1:n.280-38G>A