Canonical Allele Identifier: CA62593048
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 811944
ClinVar RCV Id: RCV001042766 RCV001002455 RCV001191595 RCV003106092
dbSNP Id: rs958176385
gnomAD v3: 2-188991717-G-T
gnomAD v4: 2-188991717-G-T
MyVariant Identifiers: chr2:g.189856443G>T (hg19) chr2:g.188991717G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188991717G>T , CM000664.2:g.188991717G>T GRCh38
NC_000002.11:g.189856443G>T , CM000664.1:g.189856443G>T GRCh37
NC_000002.10:g.189564688G>T NCBI36
NG_007404.1:g.22345G>T , LRG_3:g.22345G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.946G>T ENSP00000415346.2:p.Ala316Ser
ENST00000304636.9:c.946G>T MANE Select ENSP00000304408.4:p.Ala316Ser
ENST00000304636.7:c.946G>T ENSP00000304408.3:p.Ala316Ser
ENST00000317840.9:c.946G>T ENSP00000315243.6:p.Ala316Ser
ENST00000450867.1:c.44G>T
NM_000090.3:c.946G>T , LRG_3t1:c.946G>T NP_000081.1:p.Ala316Ser
NM_000090.4:c.946G>T MANE Select NP_000081.2:p.Ala316Ser
Search 100 bp 5'
Search 100 bp 3'