Canonical Allele Identifier: CA8289361

Gene: TRPV3

Linked Data

• ClinVar Variation Id: 2437343
• ClinVar RCV Id: RCV003142846
• dbSNP Id: rs780591476
• ExAC: 17:3427559 C / T
• gnomAD v2: 17-3427559-C-T
• gnomAD v3: 17-3524265-C-T
• gnomAD v4: 17-3524265-C-T
• MyVariant Identifiers: chr17:g.3427559C>T (hg19) ; chr17:g.3524265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524265C>T , CM000679.2:g.3524265C>T	GRCh38
NC_000017.10:g.3427559C>T , CM000679.1:g.3427559C>T	GRCh37
NC_000017.9:g.3374309C>T	NCBI36
NG_032144.2:g.38731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1676G>A MANE Select	ENSP00000461518.2:p.Trp559Ter
ENST00000301365.8:c.1676G>A	ENSP00000301365.4:p.Trp559Ter
ENST00000381913.8:c.938G>A
ENST00000571139.5:c.*1668G>A	ENSP00000458187.1:n.*1668G>A
ENST00000572519.1:c.1676G>A	ENSP00000460215.1:p.Trp559Ter
ENST00000573539.5:c.*1686G>A	ENSP00000458239.1:n.*1686G>A
ENST00000576742.5:c.1676G>A	ENSP00000461518.1:p.Trp559Ter
ENST00000577016.5:c.328+2589G>A
ENST00000616411.4:c.1628G>A	ENSP00000483947.1:p.Trp543Ter
NM_001258205.1:c.1676G>A	NP_001245134.1:p.Trp559Ter
NM_145068.3:c.1676G>A	NP_659505.1:p.Trp559Ter
XM_011523693.1:c.1577+2589G>A	XP_011521995.1:n.1577+2589G>A
XM_011523694.1:c.971G>A	XP_011521996.1:p.Trp324Ter
XM_011523695.1:c.629G>A	XP_011521997.1:p.Trp210Ter
XR_934004.1:n.1750G>A
NM_001258205.2:c.1676G>A	NP_001245134.1:p.Trp559Ter
NM_145068.4:c.1676G>A MANE Select	NP_659505.1:p.Trp559Ter