Canonical Allele Identifier: CA6780050

Gene: TRPV4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109788709G>A , CM000674.2:g.109788709G>A	GRCh38
NC_000012.11:g.110226514G>A , CM000674.1:g.110226514G>A	GRCh37
NC_000012.10:g.108710897G>A	NCBI36
NG_017090.1:g.49699C>T , LRG_372:g.49699C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.1899C>T MANE Select	ENSP00000261740.2:p.Val633=
ENST00000418703.7:c.1899C>T	ENSP00000406191.2:p.Val633=
ENST00000674908.1:c.*986C>T	ENSP00000502012.1:n.*986C>T
ENST00000675533.1:n.1930C>T
ENST00000675670.1:c.1899C>T	ENSP00000502135.1:p.Val633=
ENST00000676376.1:n.1956C>T
ENST00000261740.6:c.1899C>T	ENSP00000261740.2:p.Val633=
ENST00000418703.6:c.1899C>T	ENSP00000406191.2:p.Val633=
ENST00000536838.1:c.1797C>T	ENSP00000444336.1:p.Val599=
ENST00000537083.5:c.1719C>T	ENSP00000442738.1:p.Val573=
ENST00000538125.5:c.*282C>T	ENSP00000437449.1:n.*282C>T
ENST00000541794.5:c.1758C>T	ENSP00000442167.1:p.Val586=
ENST00000544971.5:c.1578C>T	ENSP00000443611.1:p.Val526=
NM_001177428.1:c.1758C>T	NP_001170899.1:p.Val586=
NM_001177431.1:c.1797C>T	NP_001170902.1:p.Val599=
NM_001177433.1:c.1578C>T	NP_001170904.1:p.Val526=
NM_021625.4:c.1899C>T , LRG_372t1:c.1899C>T	NP_067638.3:p.Val633=
NM_147204.2:c.1719C>T	NP_671737.1:p.Val573=
XM_005253918.1:c.1899C>T	XP_005253975.1:p.Val633=
XM_011538630.1:c.1899C>T	XP_011536932.1:p.Val633=
XM_011538631.1:c.1758C>T	XP_011536933.1:p.Val586=
XM_011538632.1:c.1719C>T	XP_011536934.1:p.Val573=
XM_011538633.1:c.1578C>T	XP_011536935.1:p.Val526=
XM_011538634.1:c.1899C>T	XP_011536936.1:p.Val633=
XM_011538635.1:c.2078C>T	XP_011536937.1:p.Ser693Phe
XM_011538630.2:c.2052C>T	XP_011536932.2:p.Val684=
XM_011538631.2:c.1911C>T	XP_011536933.2:p.Val637=
XM_011538632.2:c.1872C>T	XP_011536934.2:p.Val624=
XM_011538633.2:c.1731C>T	XP_011536935.2:p.Val577=
XM_011538634.2:c.2052C>T	XP_011536936.2:p.Val684=
XM_011538635.2:c.2078C>T	XP_011536937.1:p.Ser693Phe
XM_017019774.1:c.1899C>T	XP_016875263.1:p.Val633=
NM_021625.5:c.1899C>T MANE Select	NP_067638.3:p.Val633=