Canonical Allele Identifier: CA117189
Gene: TRPV4 HGNC NCBI

Linked Data

ClinVar Variation Id: 18431
dbSNP Id: rs267607147

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109784379G>A , CM000674.2:g.109784379G>A GRCh38
NC_000012.11:g.110222184G>A , CM000674.1:g.110222184G>A GRCh37
NC_000012.10:g.108706567G>A NCBI36
NG_017090.1:g.54029C>T , LRG_372:g.54029C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261740.7:c.2395C>T MANE Select ENSP00000261740.2:p.Pro799Ser
ENST00000418703.7:c.2395C>T ENSP00000406191.2:p.Pro799Ser
ENST00000674908.1:c.*1482C>T ENSP00000502012.1:n.*1482C>T
ENST00000675670.1:c.2395C>T ENSP00000502135.1:p.Pro799Ser
ENST00000261740.6:c.2395C>T ENSP00000261740.2:p.Pro799Ser
ENST00000418703.6:c.2395C>T ENSP00000406191.2:p.Pro799Ser
ENST00000536838.1:c.2293C>T ENSP00000444336.1:p.Pro765Ser
ENST00000537083.5:c.2215C>T ENSP00000442738.1:p.Pro739Ser
ENST00000538125.5:c.*778C>T ENSP00000437449.1:n.*778C>T
ENST00000541794.5:c.2254C>T ENSP00000442167.1:p.Pro752Ser
ENST00000544971.5:c.2074C>T ENSP00000443611.1:p.Pro692Ser
NM_001177428.1:c.2254C>T NP_001170899.1:p.Pro752Ser
NM_001177431.1:c.2293C>T NP_001170902.1:p.Pro765Ser
NM_001177433.1:c.2074C>T NP_001170904.1:p.Pro692Ser
NM_021625.4:c.2395C>T , LRG_372t1:c.2395C>T NP_067638.3:p.Pro799Ser
NM_147204.2:c.2215C>T NP_671737.1:p.Pro739Ser
XM_005253918.1:c.2395C>T XP_005253975.1:p.Pro799Ser
XM_011538630.1:c.2395C>T XP_011536932.1:p.Pro799Ser
XM_011538631.1:c.2254C>T XP_011536933.1:p.Pro752Ser
XM_011538632.1:c.2215C>T XP_011536934.1:p.Pro739Ser
XM_011538633.1:c.2074C>T XP_011536935.1:p.Pro692Ser
XM_011538630.2:c.2548C>T XP_011536932.2:p.Pro850Ser
XM_011538631.2:c.2407C>T XP_011536933.2:p.Pro803Ser
XM_011538632.2:c.2368C>T XP_011536934.2:p.Pro790Ser
XM_011538633.2:c.2227C>T XP_011536935.2:p.Pro743Ser
XM_017019774.1:c.2395C>T XP_016875263.1:p.Pro799Ser
NM_021625.5:c.2395C>T MANE Select NP_067638.3:p.Pro799Ser