Canonical Allele Identifier: CA199539
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18463
ClinVar RCV Id: RCV000018967 RCV000170340
dbSNP Id: rs267606743
MyVariant Identifiers: chr13:g.110844569C>T (hg19) chr13:g.110192222C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110192222C>T , CM000675.2:g.110192222C>T GRCh38
NC_000013.10:g.110844569C>T , CM000675.1:g.110844569C>T GRCh37
NC_000013.9:g.109642570C>T NCBI36
NG_011544.2:g.119928G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.1528G>A MANE Select ENSP00000364979.4:p.Gly510Arg
ENST00000543140.6:c.1528G>A ENSP00000443348.1:p.Gly510Arg
ENST00000649738.1:n.1658G>A
ENST00000375820.8:c.1528G>A ENSP00000364979.4:p.Gly510Arg
ENST00000543140.5:c.1528G>A ENSP00000443348.1:p.Gly510Arg
NM_001303110.1:c.1528G>A NP_001290039.1:p.Gly510Arg
NM_001845.5:c.1528G>A NP_001836.3:p.Gly510Arg
XM_011521048.1:c.1336G>A XP_011519350.1:p.Gly446Arg
XM_011521048.2:c.1336G>A XP_011519350.1:p.Gly446Arg
NM_001845.6:c.1528G>A MANE Select NP_001836.3:p.Gly510Arg
NM_001303110.2:c.1528G>A NP_001290039.1:p.Gly510Arg
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