Canonical Allele Identifier: CA397681814

Gene: TRPV3

Linked Data

• dbSNP Id: rs1298305532
• gnomAD v2: 17-3427551-T-C
• gnomAD v4: 17-3524257-T-C
• MyVariant Identifiers: chr17:g.3427551T>C (hg19) ; chr17:g.3524257T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524257T>C , CM000679.2:g.3524257T>C	GRCh38
NC_000017.10:g.3427551T>C , CM000679.1:g.3427551T>C	GRCh37
NC_000017.9:g.3374301T>C	NCBI36
NG_032144.2:g.38739A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1684A>G MANE Select	ENSP00000461518.2:p.Met562Val
ENST00000301365.8:c.1684A>G	ENSP00000301365.4:p.Met562Val
ENST00000381913.8:c.946A>G
ENST00000571139.5:c.*1676A>G	ENSP00000458187.1:n.*1676A>G
ENST00000572519.1:c.1684A>G	ENSP00000460215.1:p.Met562Val
ENST00000573539.5:c.*1694A>G	ENSP00000458239.1:n.*1694A>G
ENST00000576742.5:c.1684A>G	ENSP00000461518.1:p.Met562Val
ENST00000577016.5:c.328+2597A>G
ENST00000616411.4:c.1636A>G	ENSP00000483947.1:p.Met546Val
NM_001258205.1:c.1684A>G	NP_001245134.1:p.Met562Val
NM_145068.3:c.1684A>G	NP_659505.1:p.Met562Val
XM_011523693.1:c.1577+2597A>G	XP_011521995.1:n.1577+2597A>G
XM_011523694.1:c.979A>G	XP_011521996.1:p.Met327Val
XM_011523695.1:c.637A>G	XP_011521997.1:p.Met213Val
XR_934004.1:n.1758A>G
NM_001258205.2:c.1684A>G	NP_001245134.1:p.Met562Val
NM_145068.4:c.1684A>G MANE Select	NP_659505.1:p.Met562Val