Canonical Allele Identifier: CA347781

Gene: TRPV4

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109788483G>T , CM000674.2:g.109788483G>T	GRCh38
NC_000012.11:g.110226288G>T , CM000674.1:g.110226288G>T	GRCh37
NC_000012.10:g.108710671G>T	NCBI36
NG_017090.1:g.49925C>A , LRG_372:g.49925C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.2125C>A MANE Select	ENSP00000261740.2:p.Leu709Met
ENST00000418703.7:c.2125C>A	ENSP00000406191.2:p.Leu709Met
ENST00000674908.1:c.*1212C>A	ENSP00000502012.1:n.*1212C>A
ENST00000675533.1:n.2156C>A
ENST00000675670.1:c.2125C>A	ENSP00000502135.1:p.Leu709Met
ENST00000261740.6:c.2125C>A	ENSP00000261740.2:p.Leu709Met
ENST00000418703.6:c.2125C>A	ENSP00000406191.2:p.Leu709Met
ENST00000536838.1:c.2023C>A	ENSP00000444336.1:p.Leu675Met
ENST00000537083.5:c.1945C>A	ENSP00000442738.1:p.Leu649Met
ENST00000538125.5:c.*508C>A	ENSP00000437449.1:n.*508C>A
ENST00000541794.5:c.1984C>A	ENSP00000442167.1:p.Leu662Met
ENST00000544971.5:c.1804C>A	ENSP00000443611.1:p.Leu602Met
NM_001177428.1:c.1984C>A	NP_001170899.1:p.Leu662Met
NM_001177431.1:c.2023C>A	NP_001170902.1:p.Leu675Met
NM_001177433.1:c.1804C>A	NP_001170904.1:p.Leu602Met
NM_021625.4:c.2125C>A , LRG_372t1:c.2125C>A	NP_067638.3:p.Leu709Met
NM_147204.2:c.1945C>A	NP_671737.1:p.Leu649Met
XM_005253918.1:c.2125C>A	XP_005253975.1:p.Leu709Met
XM_011538630.1:c.2125C>A	XP_011536932.1:p.Leu709Met
XM_011538631.1:c.1984C>A	XP_011536933.1:p.Leu662Met
XM_011538632.1:c.1945C>A	XP_011536934.1:p.Leu649Met
XM_011538633.1:c.1804C>A	XP_011536935.1:p.Leu602Met
XM_011538634.1:c.2125C>A	XP_011536936.1:p.Leu709Met
XM_011538630.2:c.2278C>A	XP_011536932.2:p.Leu760Met
XM_011538631.2:c.2137C>A	XP_011536933.2:p.Leu713Met
XM_011538632.2:c.2098C>A	XP_011536934.2:p.Leu700Met
XM_011538633.2:c.1957C>A	XP_011536935.2:p.Leu653Met
XM_011538634.2:c.2278C>A	XP_011536936.2:p.Leu760Met
XM_017019774.1:c.2125C>A	XP_016875263.1:p.Leu709Met
NM_021625.5:c.2125C>A MANE Select	NP_067638.3:p.Leu709Met