Canonical Allele Identifier: CA349848832
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072208
ClinVar RCV Id: RCV004012238
dbSNP Id: rs1688132096
MyVariant Identifiers: chr2:g.189854155T>C (hg19) chr2:g.188989429T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188989429T>C , CM000664.2:g.188989429T>C GRCh38
NC_000002.11:g.189854155T>C , CM000664.1:g.189854155T>C GRCh37
NC_000002.10:g.189562400T>C NCBI36
NG_007404.1:g.20057T>C , LRG_3:g.20057T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.670T>C ENSP00000415346.2:p.Ser224Pro
ENST00000304636.9:c.670T>C MANE Select ENSP00000304408.4:p.Ser224Pro
ENST00000304636.7:c.670T>C ENSP00000304408.3:p.Ser224Pro
ENST00000317840.9:c.670T>C ENSP00000315243.6:p.Ser224Pro
NM_000090.3:c.670T>C , LRG_3t1:c.670T>C NP_000081.1:p.Ser224Pro
NM_000090.4:c.670T>C MANE Select NP_000081.2:p.Ser224Pro
Search 100 bp 5'
Search 100 bp 3'