Canonical Allele Identifier: CA10576585

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 228249
• ClinVar RCV Id: RCV000222891 ; RCV001589122
• dbSNP Id: rs587779705
• gnomAD v2: 2-189855042-G-T
• gnomAD v4: 2-188990316-G-T
• MyVariant Identifiers: chr2:g.189855042G>T (hg19) ; chr2:g.188990316G>T (hg38)
• PubMed: PMID:10706896 ; PMID:18043893 ; PMID:22038052 ; PMID:22492385 ; PMID:24399159 ; PMID:24922459 ; PMID:25758994

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188990316G>T , CM000664.2:g.188990316G>T	GRCh38
NC_000002.11:g.189855042G>T , CM000664.1:g.189855042G>T	GRCh37
NC_000002.10:g.189563287G>T	NCBI36
NG_007404.1:g.20944G>T , LRG_3:g.20944G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.754G>T	ENSP00000415346.2:p.Gly252Cys
ENST00000304636.9:c.754G>T MANE Select	ENSP00000304408.4:p.Gly252Cys
ENST00000304636.7:c.754G>T	ENSP00000304408.3:p.Gly252Cys
ENST00000317840.9:c.754G>T	ENSP00000315243.6:p.Gly252Cys
NM_000090.3:c.754G>T , LRG_3t1:c.754G>T	NP_000081.1:p.Gly252Cys
NM_000090.4:c.754G>T MANE Select	NP_000081.2:p.Gly252Cys