Canonical Allele Identifier: CA349850814
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1474242
ClinVar RCV Id: RCV001971122
dbSNP Id: rs2153502277
gnomAD v4: 2-188993380-G-A
MyVariant Identifiers: chr2:g.189858106G>A (hg19) chr2:g.188993380G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993380G>A , CM000664.2:g.188993380G>A GRCh38
NC_000002.11:g.189858106G>A , CM000664.1:g.189858106G>A GRCh37
NC_000002.10:g.189566351G>A NCBI36
NG_007404.1:g.24008G>A , LRG_3:g.24008G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1050+440G>A ENSP00000415346.2:n.1050+440G>A
ENST00000304636.9:c.1070G>A MANE Select ENSP00000304408.4:p.Gly357Glu
ENST00000304636.7:c.1070G>A ENSP00000304408.3:p.Gly357Glu
ENST00000317840.9:c.1070G>A ENSP00000315243.6:p.Gly357Glu
ENST00000450867.1:c.148+440G>A
NM_000090.3:c.1070G>A , LRG_3t1:c.1070G>A NP_000081.1:p.Gly357Glu
NM_000090.4:c.1070G>A MANE Select NP_000081.2:p.Gly357Glu
Search 100 bp 5'
Search 100 bp 3'