Canonical Allele Identifier: CA6779979

Gene: TRPV4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109786799G>A , CM000674.2:g.109786799G>A	GRCh38
NC_000012.11:g.110224604G>A , CM000674.1:g.110224604G>A	GRCh37
NC_000012.10:g.108708987G>A	NCBI36
NG_017090.1:g.51609C>T , LRG_372:g.51609C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021625.5:c.2247C>T MANE Select	NP_067638.3:p.Pro749=
ENST00000261740.7:c.2247C>T MANE Select	ENSP00000261740.2:p.Pro749=
NM_001177428.1:c.2106C>T	NP_001170899.1:p.Pro702=
NM_001177431.1:c.2145C>T	NP_001170902.1:p.Pro715=
NM_001177433.1:c.1926C>T	NP_001170904.1:p.Pro642=
NM_021625.4:c.2247C>T , LRG_372t1:c.2247C>T	NP_067638.3:p.Pro749=
NM_147204.2:c.2067C>T	NP_671737.1:p.Pro689=
ENST00000261740.6:c.2247C>T	ENSP00000261740.2:p.Pro749=
ENST00000418703.6:c.2247C>T	ENSP00000406191.2:p.Pro749=
ENST00000418703.7:c.2247C>T	ENSP00000406191.2:p.Pro749=
ENST00000536838.1:c.2145C>T	ENSP00000444336.1:p.Pro715=
ENST00000537083.5:c.2067C>T	ENSP00000442738.1:p.Pro689=
ENST00000538125.5:c.*630C>T	ENSP00000437449.1:n.*630C>T
ENST00000541794.5:c.2106C>T	ENSP00000442167.1:p.Pro702=
ENST00000544971.5:c.1926C>T	ENSP00000443611.1:p.Pro642=
ENST00000674908.1:c.*1334C>T	ENSP00000502012.1:n.*1334C>T
ENST00000675670.1:c.2247C>T	ENSP00000502135.1:p.Pro749=
XM_005253918.1:c.2247C>T	XP_005253975.1:p.Pro749=
XM_011538630.1:c.2247C>T	XP_011536932.1:p.Pro749=
XM_011538630.2:c.2400C>T	XP_011536932.2:p.Pro800=
XM_011538631.1:c.2106C>T	XP_011536933.1:p.Pro702=
XM_011538631.2:c.2259C>T	XP_011536933.2:p.Pro753=
XM_011538632.1:c.2067C>T	XP_011536934.1:p.Pro689=
XM_011538632.2:c.2220C>T	XP_011536934.2:p.Pro740=
XM_011538633.1:c.1926C>T	XP_011536935.1:p.Pro642=
XM_011538633.2:c.2079C>T	XP_011536935.2:p.Pro693=
XM_017019774.1:c.2247C>T	XP_016875263.1:p.Pro749=