Canonical Allele Identifier: CA287000355

Gene: TRPV3

Linked Data

• dbSNP Id: rs900634993
• gnomAD v2: 17-3427607-G-A
• gnomAD v4: 17-3524313-G-A
• MyVariant Identifiers: chr17:g.3427607G>A (hg19) ; chr17:g.3524313G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524313G>A , CM000679.2:g.3524313G>A	GRCh38
NC_000017.10:g.3427607G>A , CM000679.1:g.3427607G>A	GRCh37
NC_000017.9:g.3374357G>A	NCBI36
NG_032144.2:g.38683C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1628C>T MANE Select	ENSP00000461518.2:p.Ala543Val
ENST00000301365.8:c.1628C>T	ENSP00000301365.4:p.Ala543Val
ENST00000381913.8:c.899-9C>T
ENST00000571139.5:c.*1620C>T	ENSP00000458187.1:n.*1620C>T
ENST00000572519.1:c.1628C>T	ENSP00000460215.1:p.Ala543Val
ENST00000573539.5:c.*1647-9C>T	ENSP00000458239.1:n.*1647-9C>T
ENST00000576742.5:c.1628C>T	ENSP00000461518.1:p.Ala543Val
ENST00000577016.5:c.328+2541C>T
ENST00000616411.4:c.1580C>T	ENSP00000483947.1:p.Ala527Val
NM_001258205.1:c.1628C>T	NP_001245134.1:p.Ala543Val
NM_145068.3:c.1628C>T	NP_659505.1:p.Ala543Val
XM_011523693.1:c.1577+2541C>T	XP_011521995.1:n.1577+2541C>T
XM_011523694.1:c.923C>T	XP_011521996.1:p.Ala308Val
XM_011523695.1:c.581C>T	XP_011521997.1:p.Ala194Val
XR_934004.1:n.1711-9C>T
NM_001258205.2:c.1628C>T	NP_001245134.1:p.Ala543Val
NM_145068.4:c.1628C>T MANE Select	NP_659505.1:p.Ala543Val