Canonical Allele Identifier: CA8289354

Gene: TRPV3

Linked Data

• ClinVar Variation Id: 322762
• ClinVar RCV Id: RCV000291678 ; RCV002522928
• dbSNP Id: rs113716355
• ExAC: 17:3427537 C / T
• gnomAD v2: 17-3427537-C-T
• gnomAD v3: 17-3524243-C-T
• gnomAD v4: 17-3524243-C-T
• MyVariant Identifiers: chr17:g.3427537C>T (hg19) ; chr17:g.3524243C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524243C>T , CM000679.2:g.3524243C>T	GRCh38
NC_000017.10:g.3427537C>T , CM000679.1:g.3427537C>T	GRCh37
NC_000017.9:g.3374287C>T	NCBI36
NG_032144.2:g.38753G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1698G>A MANE Select	ENSP00000461518.2:p.Thr566=
ENST00000301365.8:c.1698G>A	ENSP00000301365.4:p.Thr566=
ENST00000381913.8:c.960G>A
ENST00000571139.5:c.*1690G>A	ENSP00000458187.1:n.*1690G>A
ENST00000572519.1:c.1698G>A	ENSP00000460215.1:p.Thr566=
ENST00000573539.5:c.*1708G>A	ENSP00000458239.1:n.*1708G>A
ENST00000576742.5:c.1698G>A	ENSP00000461518.1:p.Thr566=
ENST00000577016.5:c.328+2611G>A
ENST00000616411.4:c.1650G>A	ENSP00000483947.1:p.Thr550=
NM_001258205.1:c.1698G>A	NP_001245134.1:p.Thr566=
NM_145068.3:c.1698G>A	NP_659505.1:p.Thr566=
XM_011523693.1:c.1577+2611G>A	XP_011521995.1:n.1577+2611G>A
XM_011523694.1:c.993G>A	XP_011521996.1:p.Thr331=
XM_011523695.1:c.651G>A	XP_011521997.1:p.Thr217=
XR_934004.1:n.1772G>A
NM_001258205.2:c.1698G>A	NP_001245134.1:p.Thr566=
NM_145068.4:c.1698G>A MANE Select	NP_659505.1:p.Thr566=