Canonical Allele Identifier: CA273011
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161975
ClinVar RCV Id: RCV002247545
dbSNP Id: rs672601347
MyVariant Identifiers: chr13:g.110831645C>G (hg19) chr13:g.110179298C>G (hg38)
PubMed: PMID:19194877 PMID:22574627
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179298C>G , CM000675.2:g.110179298C>G GRCh38
NC_000013.10:g.110831645C>G , CM000675.1:g.110831645C>G GRCh37
NC_000013.9:g.109629646C>G NCBI36
NG_011544.2:g.132852G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2317G>C MANE Select ENSP00000364979.4:p.Gly773Arg
ENST00000649738.1:n.2447G>C
ENST00000375820.8:c.2317G>C ENSP00000364979.4:p.Gly773Arg
NM_001845.5:c.2317G>C NP_001836.3:p.Gly773Arg
XM_011521048.1:c.2125G>C XP_011519350.1:p.Gly709Arg
XM_011521048.2:c.2125G>C XP_011519350.1:p.Gly709Arg
NM_001845.6:c.2317G>C MANE Select NP_001836.3:p.Gly773Arg
Search 100 bp 5'
Search 100 bp 3'