Canonical Allele Identifier: CA397681942

Gene: TRPV3

Linked Data

• dbSNP Id: rs764913664
• gnomAD v3: 17-3524319-A-C
• gnomAD v4: 17-3524319-A-C
• MyVariant Identifiers: chr17:g.3427613A>C (hg19) ; chr17:g.3524319A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524319A>C , CM000679.2:g.3524319A>C	GRCh38
NC_000017.10:g.3427613A>C , CM000679.1:g.3427613A>C	GRCh37
NC_000017.9:g.3374363A>C	NCBI36
NG_032144.2:g.38677T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1622T>G MANE Select	ENSP00000461518.2:p.Leu541Trp
ENST00000301365.8:c.1622T>G	ENSP00000301365.4:p.Leu541Trp
ENST00000381913.8:c.899-15T>G
ENST00000571139.5:c.*1614T>G	ENSP00000458187.1:n.*1614T>G
ENST00000572519.1:c.1622T>G	ENSP00000460215.1:p.Leu541Trp
ENST00000573539.5:c.*1647-15T>G	ENSP00000458239.1:n.*1647-15T>G
ENST00000576742.5:c.1622T>G	ENSP00000461518.1:p.Leu541Trp
ENST00000577016.5:c.328+2535T>G
ENST00000616411.4:c.1574T>G	ENSP00000483947.1:p.Leu525Trp
NM_001258205.1:c.1622T>G	NP_001245134.1:p.Leu541Trp
NM_145068.3:c.1622T>G	NP_659505.1:p.Leu541Trp
XM_011523693.1:c.1577+2535T>G	XP_011521995.1:n.1577+2535T>G
XM_011523694.1:c.917T>G	XP_011521996.1:p.Leu306Trp
XM_011523695.1:c.575T>G	XP_011521997.1:p.Leu192Trp
XR_934004.1:n.1711-15T>G
NM_001258205.2:c.1622T>G	NP_001245134.1:p.Leu541Trp
NM_145068.4:c.1622T>G MANE Select	NP_659505.1:p.Leu541Trp