Canonical Allele Identifier: CA257929
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18462
ClinVar RCV Id: RCV000018966
dbSNP Id: rs267606744

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110192258C>G , CM000675.2:g.110192258C>G GRCh38
NC_000013.10:g.110844605C>G , CM000675.1:g.110844605C>G GRCh37
NC_000013.9:g.109642606C>G NCBI36
NG_011544.2:g.119892G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.1492G>C MANE Select ENSP00000364979.4:p.Gly498Arg
ENST00000543140.6:c.1492G>C ENSP00000443348.1:p.Gly498Arg
ENST00000649738.1:n.1622G>C
ENST00000375820.8:c.1492G>C ENSP00000364979.4:p.Gly498Arg
ENST00000543140.5:c.1492G>C ENSP00000443348.1:p.Gly498Arg
NM_001303110.1:c.1492G>C NP_001290039.1:p.Gly498Arg
NM_001845.5:c.1492G>C NP_001836.3:p.Gly498Arg
XM_011521048.1:c.1300G>C XP_011519350.1:p.Gly434Arg
XM_011521048.2:c.1300G>C XP_011519350.1:p.Gly434Arg
NM_001845.6:c.1492G>C MANE Select NP_001836.3:p.Gly498Arg
NM_001303110.2:c.1492G>C NP_001290039.1:p.Gly498Arg