Canonical Allele Identifier: CA397681939

Gene: TRPV3

Linked Data

• gnomAD v4: 17-3524317-A-G
• MyVariant Identifiers: chr17:g.3427611A>G (hg19) ; chr17:g.3524317A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524317A>G , CM000679.2:g.3524317A>G	GRCh38
NC_000017.10:g.3427611A>G , CM000679.1:g.3427611A>G	GRCh37
NC_000017.9:g.3374361A>G	NCBI36
NG_032144.2:g.38679T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1624T>C MANE Select	ENSP00000461518.2:p.Phe542Leu
ENST00000301365.8:c.1624T>C	ENSP00000301365.4:p.Phe542Leu
ENST00000381913.8:c.899-13T>C
ENST00000571139.5:c.*1616T>C	ENSP00000458187.1:n.*1616T>C
ENST00000572519.1:c.1624T>C	ENSP00000460215.1:p.Phe542Leu
ENST00000573539.5:c.*1647-13T>C	ENSP00000458239.1:n.*1647-13T>C
ENST00000576742.5:c.1624T>C	ENSP00000461518.1:p.Phe542Leu
ENST00000577016.5:c.328+2537T>C
ENST00000616411.4:c.1576T>C	ENSP00000483947.1:p.Phe526Leu
NM_001258205.1:c.1624T>C	NP_001245134.1:p.Phe542Leu
NM_145068.3:c.1624T>C	NP_659505.1:p.Phe542Leu
XM_011523693.1:c.1577+2537T>C	XP_011521995.1:n.1577+2537T>C
XM_011523694.1:c.919T>C	XP_011521996.1:p.Phe307Leu
XM_011523695.1:c.577T>C	XP_011521997.1:p.Phe193Leu
XR_934004.1:n.1711-13T>C
NM_001258205.2:c.1624T>C	NP_001245134.1:p.Phe542Leu
NM_145068.4:c.1624T>C MANE Select	NP_659505.1:p.Phe542Leu