Canonical Allele Identifier: CA388723400

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 449496
• ClinVar RCV Id: RCV000523396
• dbSNP Id: rs113994104
• MyVariant Identifiers: chr13:g.110844604C>T (hg19) ; chr13:g.110192257C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192257C>T , CM000675.2:g.110192257C>T	GRCh38
NC_000013.10:g.110844604C>T , CM000675.1:g.110844604C>T	GRCh37
NC_000013.9:g.109642605C>T	NCBI36
NG_011544.2:g.119893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1493G>A MANE Select	ENSP00000364979.4:p.Gly498Asp
ENST00000543140.6:c.1493G>A	ENSP00000443348.1:p.Gly498Asp
ENST00000649738.1:n.1623G>A
ENST00000375820.8:c.1493G>A	ENSP00000364979.4:p.Gly498Asp
ENST00000543140.5:c.1493G>A	ENSP00000443348.1:p.Gly498Asp
NM_001303110.1:c.1493G>A	NP_001290039.1:p.Gly498Asp
NM_001845.5:c.1493G>A	NP_001836.3:p.Gly498Asp
XM_011521048.1:c.1301G>A	XP_011519350.1:p.Gly434Asp
XM_011521048.2:c.1301G>A	XP_011519350.1:p.Gly434Asp
NM_001845.6:c.1493G>A MANE Select	NP_001836.3:p.Gly498Asp
NM_001303110.2:c.1493G>A	NP_001290039.1:p.Gly498Asp