Canonical Allele Identifier: CA349846636

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 1447849
• ClinVar RCV Id: RCV002011999
• dbSNP Id: rs2153504076
• MyVariant Identifiers: chr2:g.189873683C>T (hg19) ; chr2:g.189008957C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008957C>T , CM000664.2:g.189008957C>T	GRCh38
NC_000002.11:g.189873683C>T , CM000664.1:g.189873683C>T	GRCh37
NC_000002.10:g.189581928C>T	NCBI36
NG_007404.1:g.39585C>T , LRG_3:g.39585C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.3460C>T	ENSP00000415346.2:p.Pro1154Ser
ENST00000304636.9:c.3559C>T MANE Select	ENSP00000304408.4:p.Pro1187Ser
ENST00000304636.7:c.3559C>T	ENSP00000304408.3:p.Pro1187Ser
ENST00000317840.9:c.2650C>T	ENSP00000315243.6:p.Pro884Ser
ENST00000487010.1:n.656C>T
NM_000090.3:c.3559C>T , LRG_3t1:c.3559C>T	NP_000081.1:p.Pro1187Ser
NM_000090.4:c.3559C>T MANE Select	NP_000081.2:p.Pro1187Ser