Canonical Allele Identifier: CA6779927

Gene: TRPV4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109784341C>T , CM000674.2:g.109784341C>T	GRCh38
NC_000012.11:g.110222146C>T , CM000674.1:g.110222146C>T	GRCh37
NC_000012.10:g.108706529C>T	NCBI36
NG_017090.1:g.54067G>A , LRG_372:g.54067G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021625.5:c.2433G>A MANE Select	NP_067638.3:p.Ser811=
ENST00000261740.7:c.2433G>A MANE Select	ENSP00000261740.2:p.Ser811=
NM_001177428.1:c.2292G>A	NP_001170899.1:p.Ser764=
NM_001177431.1:c.2331G>A	NP_001170902.1:p.Ser777=
NM_001177433.1:c.2112G>A	NP_001170904.1:p.Ser704=
NM_021625.4:c.2433G>A , LRG_372t1:c.2433G>A	NP_067638.3:p.Ser811=
NM_147204.2:c.2253G>A	NP_671737.1:p.Ser751=
ENST00000261740.6:c.2433G>A	ENSP00000261740.2:p.Ser811=
ENST00000418703.6:c.2433G>A	ENSP00000406191.2:p.Ser811=
ENST00000418703.7:c.2433G>A	ENSP00000406191.2:p.Ser811=
ENST00000536838.1:c.2331G>A	ENSP00000444336.1:p.Ser777=
ENST00000537083.5:c.2253G>A	ENSP00000442738.1:p.Ser751=
ENST00000538125.5:c.*816G>A	ENSP00000437449.1:n.*816G>A
ENST00000541794.5:c.2292G>A	ENSP00000442167.1:p.Ser764=
ENST00000544971.5:c.2112G>A	ENSP00000443611.1:p.Ser704=
ENST00000674908.1:c.*1520G>A	ENSP00000502012.1:n.*1520G>A
ENST00000675670.1:c.2433G>A	ENSP00000502135.1:p.Ser811=
XM_005253918.1:c.2433G>A	XP_005253975.1:p.Ser811=
XM_011538630.1:c.2433G>A	XP_011536932.1:p.Ser811=
XM_011538630.2:c.2586G>A	XP_011536932.2:p.Ser862=
XM_011538631.1:c.2292G>A	XP_011536933.1:p.Ser764=
XM_011538631.2:c.2445G>A	XP_011536933.2:p.Ser815=
XM_011538632.1:c.2253G>A	XP_011536934.1:p.Ser751=
XM_011538632.2:c.2406G>A	XP_011536934.2:p.Ser802=
XM_011538633.1:c.2112G>A	XP_011536935.1:p.Ser704=
XM_011538633.2:c.2265G>A	XP_011536935.2:p.Ser755=
XM_017019774.1:c.2433G>A	XP_016875263.1:p.Ser811=