Canonical Allele Identifier: CA007464

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 136840
• ClinVar RCV Id: RCV000124395 ; RCV001812003 ; RCV002055478
• dbSNP Id: rs28763875
• ExAC: 2:189849470 C / T
• gnomAD v2: 2-189849470-C-T
• gnomAD v3: 2-188984744-C-T
• gnomAD v4: 2-188984744-C-T
• MyVariant Identifiers: chr2:g.189849470C>T (hg19) ; chr2:g.188984744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188984744C>T , CM000664.2:g.188984744C>T	GRCh38
NC_000002.11:g.189849470C>T , CM000664.1:g.189849470C>T	GRCh37
NC_000002.10:g.189557715C>T	NCBI36
NG_007404.1:g.15372C>T , LRG_3:g.15372C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.80-16C>T	ENSP00000415346.2:n.80-16C>T
ENST00000304636.9:c.80-16C>T MANE Select	ENSP00000304408.4:n.80-16C>T
ENST00000304636.7:c.80-16C>T	ENSP00000304408.3:n.80-16C>T
ENST00000317840.9:c.80-16C>T	ENSP00000315243.6:n.80-16C>T
ENST00000470167.1:n.176-16C>T
NM_000090.3:c.80-16C>T , LRG_3t1:c.80-16C>T	NP_000081.1:n.80-16C>T
XR_923687.1:n.10G>A
XR_923688.1:n.10G>A
XR_923689.1:n.56G>A
XR_923689.3:n.51G>A
NM_000090.4:c.80-16C>T MANE Select	NP_000081.2:n.80-16C>T