Canonical Allele Identifier: CA349842793
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1460396340
gnomAD v2: 2-189867729-G-A
gnomAD v4: 2-189003003-G-A
MyVariant Identifiers: chr2:g.189867729G>A (hg19) chr2:g.189003003G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003003G>A , CM000664.2:g.189003003G>A GRCh38
NC_000002.11:g.189867729G>A , CM000664.1:g.189867729G>A GRCh37
NC_000002.10:g.189575974G>A NCBI36
NG_007404.1:g.33631G>A , LRG_3:g.33631G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2395G>A ENSP00000415346.2:p.Glu799Lys
ENST00000304636.9:c.2494G>A MANE Select ENSP00000304408.4:p.Glu832Lys
ENST00000304636.7:c.2494G>A ENSP00000304408.3:p.Glu832Lys
ENST00000317840.9:c.2494G>A ENSP00000315243.6:p.Glu832Lys
NM_000090.3:c.2494G>A , LRG_3t1:c.2494G>A NP_000081.1:p.Glu832Lys
NM_000090.4:c.2494G>A MANE Select NP_000081.2:p.Glu832Lys
Search 100 bp 5'
Search 100 bp 3'