Canonical Allele Identifier: CA349848807
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2775094
dbSNP Id: rs1688130903

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188989420A>G , CM000664.2:g.188989420A>G GRCh38
NC_000002.11:g.189854146A>G , CM000664.1:g.189854146A>G GRCh37
NC_000002.10:g.189562391A>G NCBI36
NG_007404.1:g.20048A>G , LRG_3:g.20048A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.661A>G ENSP00000415346.2:p.Ile221Val
ENST00000304636.9:c.661A>G MANE Select ENSP00000304408.4:p.Ile221Val
ENST00000304636.7:c.661A>G ENSP00000304408.3:p.Ile221Val
ENST00000317840.9:c.661A>G ENSP00000315243.6:p.Ile221Val
NM_000090.3:c.661A>G , LRG_3t1:c.661A>G NP_000081.1:p.Ile221Val
NM_000090.4:c.661A>G MANE Select NP_000081.2:p.Ile221Val