Canonical Allele Identifier: CA259819

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 30469
• ClinVar RCV Id: RCV000023426 ; RCV000202508
• dbSNP Id: rs387906902
• MyVariant Identifiers: chr12:g.110231365G>T (hg19) ; chr12:g.109793560G>T (hg38)
• PubMed: PMID:21115951 ; PMID:24830047

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109793560G>T , CM000674.2:g.109793560G>T	GRCh38
NC_000012.11:g.110231365G>T , CM000674.1:g.110231365G>T	GRCh37
NC_000012.10:g.108715748G>T	NCBI36
NG_017090.1:g.44848C>A , LRG_372:g.44848C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.1625C>A MANE Select	ENSP00000261740.2:p.Ser542Tyr
ENST00000418703.7:c.1625C>A	ENSP00000406191.2:p.Ser542Tyr
ENST00000674908.1:c.*712C>A	ENSP00000502012.1:n.*712C>A
ENST00000675533.1:n.1656C>A
ENST00000675670.1:c.1625C>A	ENSP00000502135.1:p.Ser542Tyr
ENST00000676376.1:n.1656C>A
ENST00000261740.6:c.1625C>A	ENSP00000261740.2:p.Ser542Tyr
ENST00000418703.6:c.1625C>A	ENSP00000406191.2:p.Ser542Tyr
ENST00000536838.1:c.1523C>A	ENSP00000444336.1:p.Ser508Tyr
ENST00000537083.5:c.1445C>A	ENSP00000442738.1:p.Ser482Tyr
ENST00000538125.5:c.1625C>A	ENSP00000437449.1:p.Ser542Tyr
ENST00000541794.5:c.1484C>A	ENSP00000442167.1:p.Ser495Tyr
ENST00000544971.5:c.1304C>A	ENSP00000443611.1:p.Ser435Tyr
NM_001177428.1:c.1484C>A	NP_001170899.1:p.Ser495Tyr
NM_001177431.1:c.1523C>A	NP_001170902.1:p.Ser508Tyr
NM_001177433.1:c.1304C>A	NP_001170904.1:p.Ser435Tyr
NM_021625.4:c.1625C>A , LRG_372t1:c.1625C>A	NP_067638.3:p.Ser542Tyr
NM_147204.2:c.1445C>A	NP_671737.1:p.Ser482Tyr
XM_005253918.1:c.1625C>A	XP_005253975.1:p.Ser542Tyr
XM_011538630.1:c.1625C>A	XP_011536932.1:p.Ser542Tyr
XM_011538631.1:c.1484C>A	XP_011536933.1:p.Ser495Tyr
XM_011538632.1:c.1445C>A	XP_011536934.1:p.Ser482Tyr
XM_011538633.1:c.1304C>A	XP_011536935.1:p.Ser435Tyr
XM_011538634.1:c.1625C>A	XP_011536936.1:p.Ser542Tyr
XM_011538635.1:c.1778C>A	XP_011536937.1:p.Ser593Tyr
XM_011538636.1:c.1778C>A	XP_011536938.1:p.Ser593Tyr
XM_011538630.2:c.1778C>A	XP_011536932.2:p.Ser593Tyr
XM_011538631.2:c.1637C>A	XP_011536933.2:p.Ser546Tyr
XM_011538632.2:c.1598C>A	XP_011536934.2:p.Ser533Tyr
XM_011538633.2:c.1457C>A	XP_011536935.2:p.Ser486Tyr
XM_011538634.2:c.1778C>A	XP_011536936.2:p.Ser593Tyr
XM_011538635.2:c.1778C>A	XP_011536937.1:p.Ser593Tyr
XM_017019774.1:c.1625C>A	XP_016875263.1:p.Ser542Tyr
NM_021625.5:c.1625C>A MANE Select	NP_067638.3:p.Ser542Tyr