Canonical Allele Identifier: CA349844559
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs121912922
gnomAD v2: 2-189869038-G-A
gnomAD v4: 2-189004312-G-A
MyVariant Identifiers: chr2:g.189869038G>A (hg19) chr2:g.189004312G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004312G>A , CM000664.2:g.189004312G>A GRCh38
NC_000002.11:g.189869038G>A , CM000664.1:g.189869038G>A GRCh37
NC_000002.10:g.189577283G>A NCBI36
NG_007404.1:g.34940G>A , LRG_3:g.34940G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2780G>A ENSP00000415346.2:p.Gly927Glu
ENST00000304636.9:c.2879G>A MANE Select ENSP00000304408.4:p.Gly960Glu
ENST00000304636.7:c.2879G>A ENSP00000304408.3:p.Gly960Glu
ENST00000317840.9:c.2527+1276G>A ENSP00000315243.6:n.2527+1276G>A
NM_000090.3:c.2879G>A , LRG_3t1:c.2879G>A NP_000081.1:p.Gly960Glu
NM_000090.4:c.2879G>A MANE Select NP_000081.2:p.Gly960Glu
Search 100 bp 5'
Search 100 bp 3'