Canonical Allele Identifier: CA349839787
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1523032
ClinVar RCV Id: RCV002036459
dbSNP Id: rs2153502991
MyVariant Identifiers: chr2:g.189864018C>G (hg19) chr2:g.188999292C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188999292C>G , CM000664.2:g.188999292C>G GRCh38
NC_000002.11:g.189864018C>G , CM000664.1:g.189864018C>G GRCh37
NC_000002.10:g.189572263C>G NCBI36
NG_007404.1:g.29920C>G , LRG_3:g.29920C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1931C>G ENSP00000415346.2:p.Ala644Gly
ENST00000304636.9:c.2030C>G MANE Select ENSP00000304408.4:p.Ala677Gly
ENST00000304636.7:c.2030C>G ENSP00000304408.3:p.Ala677Gly
ENST00000317840.9:c.2030C>G ENSP00000315243.6:p.Ala677Gly
NM_000090.3:c.2030C>G , LRG_3t1:c.2030C>G NP_000081.1:p.Ala677Gly
NM_000090.4:c.2030C>G MANE Select NP_000081.2:p.Ala677Gly
Search 100 bp 5'
Search 100 bp 3'