Canonical Allele Identifier: CA397681934

Gene: TRPV3

Linked Data

• MyVariant Identifiers: chr17:g.3427610A>C (hg19) ; chr17:g.3524316A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524316A>C , CM000679.2:g.3524316A>C	GRCh38
NC_000017.10:g.3427610A>C , CM000679.1:g.3427610A>C	GRCh37
NC_000017.9:g.3374360A>C	NCBI36
NG_032144.2:g.38680T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1625T>G MANE Select	ENSP00000461518.2:p.Phe542Cys
ENST00000301365.8:c.1625T>G	ENSP00000301365.4:p.Phe542Cys
ENST00000381913.8:c.899-12T>G
ENST00000571139.5:c.*1617T>G	ENSP00000458187.1:n.*1617T>G
ENST00000572519.1:c.1625T>G	ENSP00000460215.1:p.Phe542Cys
ENST00000573539.5:c.*1647-12T>G	ENSP00000458239.1:n.*1647-12T>G
ENST00000576742.5:c.1625T>G	ENSP00000461518.1:p.Phe542Cys
ENST00000577016.5:c.328+2538T>G
ENST00000616411.4:c.1577T>G	ENSP00000483947.1:p.Phe526Cys
NM_001258205.1:c.1625T>G	NP_001245134.1:p.Phe542Cys
NM_145068.3:c.1625T>G	NP_659505.1:p.Phe542Cys
XM_011523693.1:c.1577+2538T>G	XP_011521995.1:n.1577+2538T>G
XM_011523694.1:c.920T>G	XP_011521996.1:p.Phe307Cys
XM_011523695.1:c.578T>G	XP_011521997.1:p.Phe193Cys
XR_934004.1:n.1711-12T>G
NM_001258205.2:c.1625T>G	NP_001245134.1:p.Phe542Cys
NM_145068.4:c.1625T>G MANE Select	NP_659505.1:p.Phe542Cys