Canonical Allele Identifier: CA117176

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 4998
• ClinVar RCV Id: RCV000005287 ; RCV000005288 ; RCV000202554 ; RCV000624630 ; RCV000707315 ; RCV001311314 ; RCV001253672 ; RCV003388565
• dbSNP Id: rs121912637
• MyVariant Identifiers: chr12:g.110222183G>A (hg19) ; chr12:g.109784378G>A (hg38)
• PubMed: PMID:956253 ; PMID:1520078 ; PMID:4056805 ; PMID:11891693 ; PMID:14755468 ; PMID:18587396 ; PMID:19232556 ; PMID:20037586 ; PMID:20037587 ; PMID:20037588 ; PMID:20425821 ; PMID:20460441 ; PMID:20503319 ; PMID:20577006 ; PMID:21115951 ; PMID:21288981 ; PMID:21964574 ; PMID:22791502 ; PMID:22851605 ; PMID:24677493 ; PMID:24830047 ; PMID:25900305 ; PMID:26249260 ; PMID:27330106 ; PMID:28898540

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109784378G>A , CM000674.2:g.109784378G>A	GRCh38
NC_000012.11:g.110222183G>A , CM000674.1:g.110222183G>A	GRCh37
NC_000012.10:g.108706566G>A	NCBI36
NG_017090.1:g.54030C>T , LRG_372:g.54030C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.2396C>T MANE Select	ENSP00000261740.2:p.Pro799Leu
ENST00000418703.7:c.2396C>T	ENSP00000406191.2:p.Pro799Leu
ENST00000674908.1:c.*1483C>T	ENSP00000502012.1:n.*1483C>T
ENST00000675670.1:c.2396C>T	ENSP00000502135.1:p.Pro799Leu
ENST00000261740.6:c.2396C>T	ENSP00000261740.2:p.Pro799Leu
ENST00000418703.6:c.2396C>T	ENSP00000406191.2:p.Pro799Leu
ENST00000536838.1:c.2294C>T	ENSP00000444336.1:p.Pro765Leu
ENST00000537083.5:c.2216C>T	ENSP00000442738.1:p.Pro739Leu
ENST00000538125.5:c.*779C>T	ENSP00000437449.1:n.*779C>T
ENST00000541794.5:c.2255C>T	ENSP00000442167.1:p.Pro752Leu
ENST00000544971.5:c.2075C>T	ENSP00000443611.1:p.Pro692Leu
NM_001177428.1:c.2255C>T	NP_001170899.1:p.Pro752Leu
NM_001177431.1:c.2294C>T	NP_001170902.1:p.Pro765Leu
NM_001177433.1:c.2075C>T	NP_001170904.1:p.Pro692Leu
NM_021625.4:c.2396C>T , LRG_372t1:c.2396C>T	NP_067638.3:p.Pro799Leu
NM_147204.2:c.2216C>T	NP_671737.1:p.Pro739Leu
XM_005253918.1:c.2396C>T	XP_005253975.1:p.Pro799Leu
XM_011538630.1:c.2396C>T	XP_011536932.1:p.Pro799Leu
XM_011538631.1:c.2255C>T	XP_011536933.1:p.Pro752Leu
XM_011538632.1:c.2216C>T	XP_011536934.1:p.Pro739Leu
XM_011538633.1:c.2075C>T	XP_011536935.1:p.Pro692Leu
XM_011538630.2:c.2549C>T	XP_011536932.2:p.Pro850Leu
XM_011538631.2:c.2408C>T	XP_011536933.2:p.Pro803Leu
XM_011538632.2:c.2369C>T	XP_011536934.2:p.Pro790Leu
XM_011538633.2:c.2228C>T	XP_011536935.2:p.Pro743Leu
XM_017019774.1:c.2396C>T	XP_016875263.1:p.Pro799Leu
NM_021625.5:c.2396C>T MANE Select	NP_067638.3:p.Pro799Leu