Canonical Allele Identifier: CA075628
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 676581
ClinVar RCV Id: RCV000836023
dbSNP Id: rs144780447
ExAC: 2:189868958 G / A
gnomAD v2: 2-189868958-G-A
gnomAD v3: 2-189004232-G-A
gnomAD v4: 2-189004232-G-A
MyVariant Identifiers: chr2:g.189868958G>A (hg19) chr2:g.189004232G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004232G>A , CM000664.2:g.189004232G>A GRCh38
NC_000002.11:g.189868958G>A , CM000664.1:g.189868958G>A GRCh37
NC_000002.10:g.189577203G>A NCBI36
NG_007404.1:g.34860G>A , LRG_3:g.34860G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2725-25G>A ENSP00000415346.2:n.2725-25G>A
ENST00000304636.9:c.2824-25G>A MANE Select ENSP00000304408.4:n.2824-25G>A
ENST00000304636.7:c.2824-25G>A ENSP00000304408.3:n.2824-25G>A
ENST00000317840.9:c.2527+1196G>A ENSP00000315243.6:n.2527+1196G>A
NM_000090.3:c.2824-25G>A , LRG_3t1:c.2824-25G>A NP_000081.1:n.2824-25G>A
NM_000090.4:c.2824-25G>A MANE Select NP_000081.2:n.2824-25G>A
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