Canonical Allele Identifier: CA076434
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 226540
dbSNP Id: rs1516446

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010695T>G , CM000664.2:g.189010695T>G GRCh38
NC_000002.11:g.189875421T>G , CM000664.1:g.189875421T>G GRCh37
NC_000002.10:g.189583666T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3960T>G ENSP00000415346.2:p.His1320Gln
ENST00000304636.9:c.4059T>G MANE Select ENSP00000304408.4:p.His1353Gln
ENST00000304636.7:c.4059T>G ENSP00000304408.3:p.His1353Gln
ENST00000317840.9:c.3150T>G ENSP00000315243.6:p.His1050Gln
ENST00000487010.1:n.1438T>G
NM_000090.4:c.4059T>G MANE Select NP_000081.2:p.His1353Gln