Canonical Allele Identifier: CA005604
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199735
ClinVar RCV Id: RCV000181101 RCV003996593
dbSNP Id: rs794728054
gnomAD v2: 2-189868735-G-A
gnomAD v3: 2-189004009-G-A
gnomAD v4: 2-189004009-G-A
MyVariant Identifiers: chr2:g.189868735G>A (hg19) chr2:g.189004009G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004009G>A , CM000664.2:g.189004009G>A GRCh38
NC_000002.11:g.189868735G>A , CM000664.1:g.189868735G>A GRCh37
NC_000002.10:g.189576980G>A NCBI36
NG_007404.1:g.34637G>A , LRG_3:g.34637G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2590G>A ENSP00000415346.2:p.Gly864Ser
ENST00000304636.9:c.2689G>A MANE Select ENSP00000304408.4:p.Gly897Ser
ENST00000304636.7:c.2689G>A ENSP00000304408.3:p.Gly897Ser
ENST00000317840.9:c.2527+973G>A ENSP00000315243.6:n.2527+973G>A
NM_000090.3:c.2689G>A , LRG_3t1:c.2689G>A NP_000081.1:p.Gly897Ser
NM_000090.4:c.2689G>A MANE Select NP_000081.2:p.Gly897Ser
Search 100 bp 5'
Search 100 bp 3'