Canonical Allele Identifier: CA2062560534

Gene: TRPV4

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_021625.5:c.2125C= MANE Select	NP_067638.3:p.Leu709=
ENST00000261740.7:c.2125C= MANE Select	ENSP00000261740.2:p.Leu709=
NM_001177428.1:c.1984C=	NP_001170899.1:p.Leu662=
NM_001177431.1:c.2023C=	NP_001170902.1:p.Leu675=
NM_001177433.1:c.1804C=	NP_001170904.1:p.Leu602=
NM_021625.4:c.2125C= , LRG_372t1:c.2125C=	NP_067638.3:p.Leu709=
NM_147204.2:c.1945C=	NP_671737.1:p.Leu649=
ENST00000261740.6:c.2125C=	ENSP00000261740.2:p.Leu709=
ENST00000418703.6:c.2125C=	ENSP00000406191.2:p.Leu709=
ENST00000418703.7:c.2125C=	ENSP00000406191.2:p.Leu709=
ENST00000536838.1:c.2023C=	ENSP00000444336.1:p.Leu675=
ENST00000537083.5:c.1945C=	ENSP00000442738.1:p.Leu649=
ENST00000538125.5:c.*508C=	ENSP00000437449.1:n.*508C=
ENST00000541794.5:c.1984C=	ENSP00000442167.1:p.Leu662=
ENST00000544971.5:c.1804C=	ENSP00000443611.1:p.Leu602=
ENST00000674908.1:c.*1212C=	ENSP00000502012.1:n.*1212C=
ENST00000675533.1:n.2156C=
ENST00000675670.1:c.2125C=	ENSP00000502135.1:p.Leu709=
XM_005253918.1:c.2125C=	XP_005253975.1:p.Leu709=
XM_011538630.1:c.2125C=	XP_011536932.1:p.Leu709=
XM_011538630.2:c.2278C=	XP_011536932.2:p.Leu760=
XM_011538631.1:c.1984C=	XP_011536933.1:p.Leu662=
XM_011538631.2:c.2137C=	XP_011536933.2:p.Leu713=
XM_011538632.1:c.1945C=	XP_011536934.1:p.Leu649=
XM_011538632.2:c.2098C=	XP_011536934.2:p.Leu700=
XM_011538633.1:c.1804C=	XP_011536935.1:p.Leu602=
XM_011538633.2:c.1957C=	XP_011536935.2:p.Leu653=
XM_011538634.1:c.2125C=	XP_011536936.1:p.Leu709=
XM_011538634.2:c.2278C=	XP_011536936.2:p.Leu760=
XM_017019774.1:c.2125C=	XP_016875263.1:p.Leu709=