Canonical Allele Identifier: CA7047909

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 882475
• ClinVar RCV Id: RCV001112176 ; RCV002249717
• dbSNP Id: rs749215704
• ExAC: 13:110844627 G / A
• gnomAD v2: 13-110844627-G-A
• gnomAD v3: 13-110192280-G-A
• gnomAD v4: 13-110192280-G-A
• MyVariant Identifiers: chr13:g.110844627G>A (hg19) ; chr13:g.110192280G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192280G>A , CM000675.2:g.110192280G>A	GRCh38
NC_000013.10:g.110844627G>A , CM000675.1:g.110844627G>A	GRCh37
NC_000013.9:g.109642628G>A	NCBI36
NG_011544.2:g.119870C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1470C>T MANE Select	ENSP00000364979.4:p.Phe490=
ENST00000543140.6:c.1470C>T	ENSP00000443348.1:p.Phe490=
ENST00000649738.1:n.1600C>T
ENST00000375820.8:c.1470C>T	ENSP00000364979.4:p.Phe490=
ENST00000543140.5:c.1470C>T	ENSP00000443348.1:p.Phe490=
NM_001303110.1:c.1470C>T	NP_001290039.1:p.Phe490=
NM_001845.5:c.1470C>T	NP_001836.3:p.Phe490=
XM_011521048.1:c.1278C>T	XP_011519350.1:p.Phe426=
XM_011521048.2:c.1278C>T	XP_011519350.1:p.Phe426=
NM_001845.6:c.1470C>T MANE Select	NP_001836.3:p.Phe490=
NM_001303110.2:c.1470C>T	NP_001290039.1:p.Phe490=