Canonical Allele Identifier: CA076473
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2956145
ClinVar RCV Id: RCV003813881
dbSNP Id: rs767716621
ExAC: 2:189875513 G / A
gnomAD v2: 2-189875513-G-A
gnomAD v4: 2-189010787-G-A
MyVariant Identifiers: chr2:g.189875513G>A (hg19) chr2:g.189010787G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010787G>A , CM000664.2:g.189010787G>A GRCh38
NC_000002.11:g.189875513G>A , CM000664.1:g.189875513G>A GRCh37
NC_000002.10:g.189583758G>A NCBI36
NG_007404.1:g.41415G>A , LRG_3:g.41415G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.4052G>A ENSP00000415346.2:p.Gly1351Glu
ENST00000304636.9:c.4151G>A MANE Select ENSP00000304408.4:p.Gly1384Glu
ENST00000304636.7:c.4151G>A ENSP00000304408.3:p.Gly1384Glu
ENST00000317840.9:c.3242G>A ENSP00000315243.6:p.Gly1081Glu
ENST00000487010.1:n.1530G>A
NM_000090.3:c.4151G>A , LRG_3t1:c.4151G>A NP_000081.1:p.Gly1384Glu
NM_000090.4:c.4151G>A MANE Select NP_000081.2:p.Gly1384Glu
Search 100 bp 5'
Search 100 bp 3'