Canonical Allele Identifier: CA388723424

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 2837520
• ClinVar RCV Id: RCV003692596
• MyVariant Identifiers: chr13:g.110844616G>C (hg19) ; chr13:g.110192269G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192269G>C , CM000675.2:g.110192269G>C	GRCh38
NC_000013.10:g.110844616G>C , CM000675.1:g.110844616G>C	GRCh37
NC_000013.9:g.109642617G>C	NCBI36
NG_011544.2:g.119881C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1481C>G MANE Select	ENSP00000364979.4:p.Pro494Arg
ENST00000543140.6:c.1481C>G	ENSP00000443348.1:p.Pro494Arg
ENST00000649738.1:n.1611C>G
ENST00000375820.8:c.1481C>G	ENSP00000364979.4:p.Pro494Arg
ENST00000543140.5:c.1481C>G	ENSP00000443348.1:p.Pro494Arg
NM_001303110.1:c.1481C>G	NP_001290039.1:p.Pro494Arg
NM_001845.5:c.1481C>G	NP_001836.3:p.Pro494Arg
XM_011521048.1:c.1289C>G	XP_011519350.1:p.Pro430Arg
XM_011521048.2:c.1289C>G	XP_011519350.1:p.Pro430Arg
NM_001845.6:c.1481C>G MANE Select	NP_001836.3:p.Pro494Arg
NM_001303110.2:c.1481C>G	NP_001290039.1:p.Pro494Arg