Canonical Allele Identifier: CA349846695
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2501870
ClinVar RCV Id: RCV003274358 RCV003228289
dbSNP Id: rs1688658585
MyVariant Identifiers: chr2:g.189873714G>C (hg19) chr2:g.189008988G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008988G>C , CM000664.2:g.189008988G>C GRCh38
NC_000002.11:g.189873714G>C , CM000664.1:g.189873714G>C GRCh37
NC_000002.10:g.189581959G>C NCBI36
NG_007404.1:g.39616G>C , LRG_3:g.39616G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3491G>C ENSP00000415346.2:p.Cys1164Ser
ENST00000304636.9:c.3590G>C MANE Select ENSP00000304408.4:p.Cys1197Ser
ENST00000304636.7:c.3590G>C ENSP00000304408.3:p.Cys1197Ser
ENST00000317840.9:c.2681G>C ENSP00000315243.6:p.Cys894Ser
ENST00000487010.1:n.687G>C
NM_000090.3:c.3590G>C , LRG_3t1:c.3590G>C NP_000081.1:p.Cys1197Ser
NM_000090.4:c.3590G>C MANE Select NP_000081.2:p.Cys1197Ser
Search 100 bp 5'
Search 100 bp 3'