Canonical Allele Identifier: CA388723411

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 1352400
• ClinVar RCV Id: RCV002047574
• dbSNP Id: rs1377162046
• gnomAD v2: 13-110844610-G-C
• gnomAD v4: 13-110192263-G-C
• MyVariant Identifiers: chr13:g.110844610G>C (hg19) ; chr13:g.110192263G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192263G>C , CM000675.2:g.110192263G>C	GRCh38
NC_000013.10:g.110844610G>C , CM000675.1:g.110844610G>C	GRCh37
NC_000013.9:g.109642611G>C	NCBI36
NG_011544.2:g.119887C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1487C>G MANE Select	ENSP00000364979.4:p.Ala496Gly
ENST00000543140.6:c.1487C>G	ENSP00000443348.1:p.Ala496Gly
ENST00000649738.1:n.1617C>G
ENST00000375820.8:c.1487C>G	ENSP00000364979.4:p.Ala496Gly
ENST00000543140.5:c.1487C>G	ENSP00000443348.1:p.Ala496Gly
NM_001303110.1:c.1487C>G	NP_001290039.1:p.Ala496Gly
NM_001845.5:c.1487C>G	NP_001836.3:p.Ala496Gly
XM_011521048.1:c.1295C>G	XP_011519350.1:p.Ala432Gly
XM_011521048.2:c.1295C>G	XP_011519350.1:p.Ala432Gly
NM_001845.6:c.1487C>G MANE Select	NP_001836.3:p.Ala496Gly
NM_001303110.2:c.1487C>G	NP_001290039.1:p.Ala496Gly