Canonical Allele Identifier: CA347704

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 126472
• ClinVar RCV Id: RCV000202452 ; RCV001596963 ; RCV003505098
• dbSNP Id: rs515726162
• MyVariant Identifiers: chr12:g.110230208G>T (hg19) ; chr12:g.109792403G>T (hg38)
• PubMed: PMID:24830047

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109792403G>T , CM000674.2:g.109792403G>T	GRCh38
NC_000012.11:g.110230208G>T , CM000674.1:g.110230208G>T	GRCh37
NC_000012.10:g.108714591G>T	NCBI36
NG_017090.1:g.46005C>A , LRG_372:g.46005C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.1851C>A MANE Select	ENSP00000261740.2:p.Phe617Leu
ENST00000418703.7:c.1851C>A	ENSP00000406191.2:p.Phe617Leu
ENST00000674908.1:c.*938C>A	ENSP00000502012.1:n.*938C>A
ENST00000675533.1:n.1882C>A
ENST00000675670.1:c.1851C>A	ENSP00000502135.1:p.Phe617Leu
ENST00000676376.1:n.1882C>A
ENST00000261740.6:c.1851C>A	ENSP00000261740.2:p.Phe617Leu
ENST00000418703.6:c.1851C>A	ENSP00000406191.2:p.Phe617Leu
ENST00000536838.1:c.1749C>A	ENSP00000444336.1:p.Phe583Leu
ENST00000537083.5:c.1671C>A	ENSP00000442738.1:p.Phe557Leu
ENST00000538125.5:c.*234C>A	ENSP00000437449.1:n.*234C>A
ENST00000541794.5:c.1710C>A	ENSP00000442167.1:p.Phe570Leu
ENST00000544971.5:c.1530C>A	ENSP00000443611.1:p.Phe510Leu
NM_001177428.1:c.1710C>A	NP_001170899.1:p.Phe570Leu
NM_001177431.1:c.1749C>A	NP_001170902.1:p.Phe583Leu
NM_001177433.1:c.1530C>A	NP_001170904.1:p.Phe510Leu
NM_021625.4:c.1851C>A , LRG_372t1:c.1851C>A	NP_067638.3:p.Phe617Leu
NM_147204.2:c.1671C>A	NP_671737.1:p.Phe557Leu
XM_005253918.1:c.1851C>A	XP_005253975.1:p.Phe617Leu
XM_011538630.1:c.1851C>A	XP_011536932.1:p.Phe617Leu
XM_011538631.1:c.1710C>A	XP_011536933.1:p.Phe570Leu
XM_011538632.1:c.1671C>A	XP_011536934.1:p.Phe557Leu
XM_011538633.1:c.1530C>A	XP_011536935.1:p.Phe510Leu
XM_011538634.1:c.1851C>A	XP_011536936.1:p.Phe617Leu
XM_011538635.1:c.2004C>A	XP_011536937.1:p.Phe668Leu
XM_011538630.2:c.2004C>A	XP_011536932.2:p.Phe668Leu
XM_011538631.2:c.1863C>A	XP_011536933.2:p.Phe621Leu
XM_011538632.2:c.1824C>A	XP_011536934.2:p.Phe608Leu
XM_011538633.2:c.1683C>A	XP_011536935.2:p.Phe561Leu
XM_011538634.2:c.2004C>A	XP_011536936.2:p.Phe668Leu
XM_011538635.2:c.2004C>A	XP_011536937.1:p.Phe668Leu
XM_017019774.1:c.1851C>A	XP_016875263.1:p.Phe617Leu
NM_021625.5:c.1851C>A MANE Select	NP_067638.3:p.Phe617Leu