Canonical Allele Identifier: CA2573133050

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 1651963
• ClinVar RCV Id: RCV002154307
• dbSNP Id: rs2153501873

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188989456T>C , CM000664.2:g.188989456T>C	GRCh38
NC_000002.11:g.189854182T>C , CM000664.1:g.189854182T>C	GRCh37
NC_000002.10:g.189562427T>C	NCBI36
NG_007404.1:g.20084T>C , LRG_3:g.20084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.690+7T>C	ENSP00000415346.2:n.690+7T>C
ENST00000304636.9:c.690+7T>C MANE Select	ENSP00000304408.4:n.690+7T>C
ENST00000304636.7:c.690+7T>C	ENSP00000304408.3:n.690+7T>C
ENST00000317840.9:c.690+7T>C	ENSP00000315243.6:n.690+7T>C
NM_000090.3:c.690+7T>C , LRG_3t1:c.690+7T>C	NP_000081.1:n.690+7T>C
NM_000090.4:c.690+7T>C MANE Select	NP_000081.2:n.690+7T>C