Canonical Allele Identifier: CA397681784

Gene: TRPV3

Linked Data

• dbSNP Id: rs2074274106
• gnomAD v3: 17-3524244-G-A
• gnomAD v4: 17-3524244-G-A
• COSMIC: COSM4736740 ; COSM4736741
• MyVariant Identifiers: chr17:g.3427538G>A (hg19) ; chr17:g.3524244G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524244G>A , CM000679.2:g.3524244G>A	GRCh38
NC_000017.10:g.3427538G>A , CM000679.1:g.3427538G>A	GRCh37
NC_000017.9:g.3374288G>A	NCBI36
NG_032144.2:g.38752C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1697C>T MANE Select	ENSP00000461518.2:p.Thr566Met
ENST00000301365.8:c.1697C>T	ENSP00000301365.4:p.Thr566Met
ENST00000381913.8:c.959C>T
ENST00000571139.5:c.*1689C>T	ENSP00000458187.1:n.*1689C>T
ENST00000572519.1:c.1697C>T	ENSP00000460215.1:p.Thr566Met
ENST00000573539.5:c.*1707C>T	ENSP00000458239.1:n.*1707C>T
ENST00000576742.5:c.1697C>T	ENSP00000461518.1:p.Thr566Met
ENST00000577016.5:c.328+2610C>T
ENST00000616411.4:c.1649C>T	ENSP00000483947.1:p.Thr550Met
NM_001258205.1:c.1697C>T	NP_001245134.1:p.Thr566Met
NM_145068.3:c.1697C>T	NP_659505.1:p.Thr566Met
XM_011523693.1:c.1577+2610C>T	XP_011521995.1:n.1577+2610C>T
XM_011523694.1:c.992C>T	XP_011521996.1:p.Thr331Met
XM_011523695.1:c.650C>T	XP_011521997.1:p.Thr217Met
XR_934004.1:n.1771C>T
NM_001258205.2:c.1697C>T	NP_001245134.1:p.Thr566Met
NM_145068.4:c.1697C>T MANE Select	NP_659505.1:p.Thr566Met