Canonical Allele Identifier: CA16042424
Gene: COL3A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372921
dbSNP Id: rs1057518075

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188995061C>T , CM000664.2:g.188995061C>T GRCh38
NC_000002.11:g.189859787C>T , CM000664.1:g.189859787C>T GRCh37
NC_000002.10:g.189568032C>T NCBI36
NG_007404.1:g.25689C>T , LRG_3:g.25689C>T

Transcript Alleles

HGVS Amino-acid change
NM_000090.3:c.1471C>T , LRG_3t1:c.1471C>T NP_000081.1:p.Arg491Ter
ENST00000304636.7:c.1471C>T ENSP00000304408.3:p.Arg491Ter
ENST00000317840.9:c.1471C>T ENSP00000315243.6:p.Arg491Ter