Canonical Allele Identifier: CA129385
Gene: TRPV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 30638
ClinVar RCV Id: RCV000023613 RCV000059644
dbSNP Id: rs199473705
MyVariant Identifiers: chr17:g.3421881A>C (hg19) chr17:g.3518587A>C (hg38)
PubMed: PMID:22405088
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3518587A>C , CM000679.2:g.3518587A>C GRCh38
NC_000017.10:g.3421881A>C , CM000679.1:g.3421881A>C GRCh37
NC_000017.9:g.3368631A>C NCBI36
NG_032144.2:g.44409T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000576742.6:c.2074T>G MANE Select ENSP00000461518.2:p.Trp692Gly
ENST00000301365.8:c.2074T>G ENSP00000301365.4:p.Trp692Gly
ENST00000381913.8:c.1336T>G
ENST00000571139.5:c.*2066T>G ENSP00000458187.1:n.*2066T>G
ENST00000572519.1:c.2074T>G ENSP00000460215.1:p.Trp692Gly
ENST00000573539.5:c.*2084T>G ENSP00000458239.1:n.*2084T>G
ENST00000576742.5:c.2074T>G ENSP00000461518.1:p.Trp692Gly
ENST00000577016.5:c.592T>G
ENST00000616411.4:c.2026T>G ENSP00000483947.1:p.Trp676Gly
NM_001258205.1:c.2074T>G NP_001245134.1:p.Trp692Gly
NM_145068.3:c.2074T>G NP_659505.1:p.Trp692Gly
XM_011523694.1:c.1369T>G XP_011521996.1:p.Trp457Gly
XM_011523695.1:c.1027T>G XP_011521997.1:p.Trp343Gly
XR_934004.1:n.2148T>G
NM_001258205.2:c.2074T>G NP_001245134.1:p.Trp692Gly
NM_145068.4:c.2074T>G MANE Select NP_659505.1:p.Trp692Gly
Search 100 bp 5'
Search 100 bp 3'