Canonical Allele Identifier: CA349851674
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3073761
ClinVar RCV Id: RCV004016767
gnomAD v4: 2-188994571-G-C
COSMIC: COSM6089820 COSM6089821
MyVariant Identifiers: chr2:g.189859297G>C (hg19) chr2:g.188994571G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994571G>C , CM000664.2:g.188994571G>C GRCh38
NC_000002.11:g.189859297G>C , CM000664.1:g.189859297G>C GRCh37
NC_000002.10:g.189567542G>C NCBI36
NG_007404.1:g.25199G>C , LRG_3:g.25199G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1225G>C ENSP00000415346.2:p.Glu409Gln
ENST00000304636.9:c.1324G>C MANE Select ENSP00000304408.4:p.Glu442Gln
ENST00000304636.7:c.1324G>C ENSP00000304408.3:p.Glu442Gln
ENST00000317840.9:c.1324G>C ENSP00000315243.6:p.Glu442Gln
NM_000090.3:c.1324G>C , LRG_3t1:c.1324G>C NP_000081.1:p.Glu442Gln
NM_000090.4:c.1324G>C MANE Select NP_000081.2:p.Glu442Gln
Search 100 bp 5'
Search 100 bp 3'