Canonical Allele Identifier: CA386651803

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 1453327
• ClinVar RCV Id: RCV002002352
• dbSNP Id: rs2136466291
• gnomAD v4: 12-109792405-A-G
• MyVariant Identifiers: chr12:g.110230210A>G (hg19) ; chr12:g.109792405A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109792405A>G , CM000674.2:g.109792405A>G	GRCh38
NC_000012.11:g.110230210A>G , CM000674.1:g.110230210A>G	GRCh37
NC_000012.10:g.108714593A>G	NCBI36
NG_017090.1:g.46003T>C , LRG_372:g.46003T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.1849T>C MANE Select	ENSP00000261740.2:p.Phe617Leu
ENST00000418703.7:c.1849T>C	ENSP00000406191.2:p.Phe617Leu
ENST00000674908.1:c.*936T>C	ENSP00000502012.1:n.*936T>C
ENST00000675533.1:n.1880T>C
ENST00000675670.1:c.1849T>C	ENSP00000502135.1:p.Phe617Leu
ENST00000676376.1:n.1880T>C
ENST00000261740.6:c.1849T>C	ENSP00000261740.2:p.Phe617Leu
ENST00000418703.6:c.1849T>C	ENSP00000406191.2:p.Phe617Leu
ENST00000536838.1:c.1747T>C	ENSP00000444336.1:p.Phe583Leu
ENST00000537083.5:c.1669T>C	ENSP00000442738.1:p.Phe557Leu
ENST00000538125.5:c.*232T>C	ENSP00000437449.1:n.*232T>C
ENST00000541794.5:c.1708T>C	ENSP00000442167.1:p.Phe570Leu
ENST00000544971.5:c.1528T>C	ENSP00000443611.1:p.Phe510Leu
NM_001177428.1:c.1708T>C	NP_001170899.1:p.Phe570Leu
NM_001177431.1:c.1747T>C	NP_001170902.1:p.Phe583Leu
NM_001177433.1:c.1528T>C	NP_001170904.1:p.Phe510Leu
NM_021625.4:c.1849T>C , LRG_372t1:c.1849T>C	NP_067638.3:p.Phe617Leu
NM_147204.2:c.1669T>C	NP_671737.1:p.Phe557Leu
XM_005253918.1:c.1849T>C	XP_005253975.1:p.Phe617Leu
XM_011538630.1:c.1849T>C	XP_011536932.1:p.Phe617Leu
XM_011538631.1:c.1708T>C	XP_011536933.1:p.Phe570Leu
XM_011538632.1:c.1669T>C	XP_011536934.1:p.Phe557Leu
XM_011538633.1:c.1528T>C	XP_011536935.1:p.Phe510Leu
XM_011538634.1:c.1849T>C	XP_011536936.1:p.Phe617Leu
XM_011538635.1:c.2002T>C	XP_011536937.1:p.Phe668Leu
XM_011538630.2:c.2002T>C	XP_011536932.2:p.Phe668Leu
XM_011538631.2:c.1861T>C	XP_011536933.2:p.Phe621Leu
XM_011538632.2:c.1822T>C	XP_011536934.2:p.Phe608Leu
XM_011538633.2:c.1681T>C	XP_011536935.2:p.Phe561Leu
XM_011538634.2:c.2002T>C	XP_011536936.2:p.Phe668Leu
XM_011538635.2:c.2002T>C	XP_011536937.1:p.Phe668Leu
XM_017019774.1:c.1849T>C	XP_016875263.1:p.Phe617Leu
NM_021625.5:c.1849T>C MANE Select	NP_067638.3:p.Phe617Leu