Canonical Allele Identifier: CA728335221

Gene: TRPV3

Linked Data

• dbSNP Id: rs1370466325
• gnomAD v3: 17-3524054-A-G
• gnomAD v4: 17-3524054-A-G
• MyVariant Identifiers: chr17:g.3427348A>G (hg19) ; chr17:g.3524054A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524054A>G , CM000679.2:g.3524054A>G	GRCh38
NC_000017.10:g.3427348A>G , CM000679.1:g.3427348A>G	GRCh37
NC_000017.9:g.3374098A>G	NCBI36
NG_032144.2:g.38942T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1743+144T>C MANE Select	ENSP00000461518.2:n.1743+144T>C
ENST00000301365.8:c.1743+144T>C	ENSP00000301365.4:n.1743+144T>C
ENST00000381913.8:c.1005+144T>C
ENST00000571139.5:c.*1735+144T>C	ENSP00000458187.1:n.*1735+144T>C
ENST00000572519.1:c.1743+144T>C	ENSP00000460215.1:n.1743+144T>C
ENST00000573539.5:c.*1753+144T>C	ENSP00000458239.1:n.*1753+144T>C
ENST00000576742.5:c.1743+144T>C	ENSP00000461518.1:n.1743+144T>C
ENST00000577016.5:c.328+2800T>C
ENST00000616411.4:c.1695+144T>C	ENSP00000483947.1:n.1695+144T>C
NM_001258205.1:c.1743+144T>C	NP_001245134.1:n.1743+144T>C
NM_145068.3:c.1743+144T>C	NP_659505.1:n.1743+144T>C
XM_011523693.1:c.1577+2800T>C	XP_011521995.1:n.1577+2800T>C
XM_011523694.1:c.1038+144T>C	XP_011521996.1:n.1038+144T>C
XM_011523695.1:c.696+144T>C	XP_011521997.1:n.696+144T>C
XR_934004.1:n.1817+144T>C
NM_001258205.2:c.1743+144T>C	NP_001245134.1:n.1743+144T>C
NM_145068.4:c.1743+144T>C MANE Select	NP_659505.1:n.1743+144T>C