Canonical Allele Identifier: CA397681782

Gene: TRPV3

Linked Data

• dbSNP Id: rs199905369
• gnomAD v2: 17-3427535-C-G
• gnomAD v3: 17-3524241-C-G
• gnomAD v4: 17-3524241-C-G
• MyVariant Identifiers: chr17:g.3427535C>G (hg19) ; chr17:g.3524241C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524241C>G , CM000679.2:g.3524241C>G	GRCh38
NC_000017.10:g.3427535C>G , CM000679.1:g.3427535C>G	GRCh37
NC_000017.9:g.3374285C>G	NCBI36
NG_032144.2:g.38755G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1700G>C MANE Select	ENSP00000461518.2:p.Arg567Pro
ENST00000301365.8:c.1700G>C	ENSP00000301365.4:p.Arg567Pro
ENST00000381913.8:c.962G>C
ENST00000571139.5:c.*1692G>C	ENSP00000458187.1:n.*1692G>C
ENST00000572519.1:c.1700G>C	ENSP00000460215.1:p.Arg567Pro
ENST00000573539.5:c.*1710G>C	ENSP00000458239.1:n.*1710G>C
ENST00000576742.5:c.1700G>C	ENSP00000461518.1:p.Arg567Pro
ENST00000577016.5:c.328+2613G>C
ENST00000616411.4:c.1652G>C	ENSP00000483947.1:p.Arg551Pro
NM_001258205.1:c.1700G>C	NP_001245134.1:p.Arg567Pro
NM_145068.3:c.1700G>C	NP_659505.1:p.Arg567Pro
XM_011523693.1:c.1577+2613G>C	XP_011521995.1:n.1577+2613G>C
XM_011523694.1:c.995G>C	XP_011521996.1:p.Arg332Pro
XM_011523695.1:c.653G>C	XP_011521997.1:p.Arg218Pro
XR_934004.1:n.1774G>C
NM_001258205.2:c.1700G>C	NP_001245134.1:p.Arg567Pro
NM_145068.4:c.1700G>C MANE Select	NP_659505.1:p.Arg567Pro