Canonical Allele Identifier: CA624850457

Gene: TRPV3

Linked Data

• dbSNP Id: rs1234154524
• gnomAD v2: 17-3421794-C-A
• gnomAD v3: 17-3518500-C-A
• gnomAD v4: 17-3518500-C-A
• MyVariant Identifiers: chr17:g.3421794C>A (hg19) ; chr17:g.3518500C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3518500C>A , CM000679.2:g.3518500C>A	GRCh38
NC_000017.10:g.3421794C>A , CM000679.1:g.3421794C>A	GRCh37
NC_000017.9:g.3368544C>A	NCBI36
NG_032144.2:g.44496G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000576742.6:c.2085+76G>T MANE Select	ENSP00000461518.2:n.2085+76G>T
ENST00000301365.8:c.2085+76G>T	ENSP00000301365.4:n.2085+76G>T
ENST00000381913.8:c.1347+76G>T
ENST00000571139.5:c.*2077+76G>T	ENSP00000458187.1:n.*2077+76G>T
ENST00000572519.1:c.2085+76G>T	ENSP00000460215.1:n.2085+76G>T
ENST00000573539.5:c.*2095+76G>T	ENSP00000458239.1:n.*2095+76G>T
ENST00000576742.5:c.2085+76G>T	ENSP00000461518.1:n.2085+76G>T
ENST00000577016.5:c.603+76G>T
ENST00000616411.4:c.2037+76G>T	ENSP00000483947.1:n.2037+76G>T
NM_001258205.1:c.2085+76G>T	NP_001245134.1:n.2085+76G>T
NM_145068.3:c.2085+76G>T	NP_659505.1:n.2085+76G>T
XM_011523694.1:c.1380+76G>T	XP_011521996.1:n.1380+76G>T
XM_011523695.1:c.1038+76G>T	XP_011521997.1:n.1038+76G>T
XR_934004.1:n.2159+76G>T
NM_001258205.2:c.2085+76G>T	NP_001245134.1:n.2085+76G>T
NM_145068.4:c.2085+76G>T MANE Select	NP_659505.1:n.2085+76G>T