Canonical Allele Identifier: CA349844227

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 2574099
• ClinVar RCV Id: RCV003485917
• MyVariant Identifiers: chr2:g.189868843G>T (hg19) ; chr2:g.189004117G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189004117G>T , CM000664.2:g.189004117G>T	GRCh38
NC_000002.11:g.189868843G>T , CM000664.1:g.189868843G>T	GRCh37
NC_000002.10:g.189577088G>T	NCBI36
NG_007404.1:g.34745G>T , LRG_3:g.34745G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2698G>T	ENSP00000415346.2:p.Gly900Ter
ENST00000304636.9:c.2797G>T MANE Select	ENSP00000304408.4:p.Gly933Ter
ENST00000304636.7:c.2797G>T	ENSP00000304408.3:p.Gly933Ter
ENST00000317840.9:c.2527+1081G>T	ENSP00000315243.6:n.2527+1081G>T
NM_000090.3:c.2797G>T , LRG_3t1:c.2797G>T	NP_000081.1:p.Gly933Ter
NM_000090.4:c.2797G>T MANE Select	NP_000081.2:p.Gly933Ter