Canonical Allele Identifier: CA62596421
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 837518
ClinVar RCV Id: RCV001038875 RCV001181186
dbSNP Id: rs200866608
gnomAD v3: 2-188995070-G-A
gnomAD v4: 2-188995070-G-A
MyVariant Identifiers: chr2:g.189859796G>A (hg19) chr2:g.188995070G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188995070G>A , CM000664.2:g.188995070G>A GRCh38
NC_000002.11:g.189859796G>A , CM000664.1:g.189859796G>A GRCh37
NC_000002.10:g.189568041G>A NCBI36
NG_007404.1:g.25698G>A , LRG_3:g.25698G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1381G>A ENSP00000415346.2:p.Ala461Thr
ENST00000304636.9:c.1480G>A MANE Select ENSP00000304408.4:p.Ala494Thr
ENST00000304636.7:c.1480G>A ENSP00000304408.3:p.Ala494Thr
ENST00000317840.9:c.1480G>A ENSP00000315243.6:p.Ala494Thr
NM_000090.3:c.1480G>A , LRG_3t1:c.1480G>A NP_000081.1:p.Ala494Thr
NM_000090.4:c.1480G>A MANE Select NP_000081.2:p.Ala494Thr
Search 100 bp 5'
Search 100 bp 3'