Canonical Allele Identifier: CA347755

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 126463
• ClinVar RCV Id: RCV000202504 ; RCV001854531 ; RCV001804841
• dbSNP Id: rs515726153
• MyVariant Identifiers: chr12:g.110234443T>C (hg19) ; chr12:g.109796638T>C (hg38)
• PubMed: PMID:24830047

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109796638T>C , CM000674.2:g.109796638T>C	GRCh38
NC_000012.11:g.110234443T>C , CM000674.1:g.110234443T>C	GRCh37
NC_000012.10:g.108718826T>C	NCBI36
NG_017090.1:g.41770A>G , LRG_372:g.41770A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.1219A>G MANE Select	ENSP00000261740.2:p.Lys407Glu
ENST00000418703.7:c.1219A>G	ENSP00000406191.2:p.Lys407Glu
ENST00000674908.1:c.*306A>G	ENSP00000502012.1:n.*306A>G
ENST00000675533.1:n.1250A>G
ENST00000675670.1:c.1219A>G	ENSP00000502135.1:p.Lys407Glu
ENST00000676376.1:n.1250A>G
ENST00000261740.6:c.1219A>G	ENSP00000261740.2:p.Lys407Glu
ENST00000418703.6:c.1219A>G	ENSP00000406191.2:p.Lys407Glu
ENST00000536838.1:c.1117A>G	ENSP00000444336.1:p.Lys373Glu
ENST00000537083.5:c.1152+1976A>G	ENSP00000442738.1:n.1152+1976A>G
ENST00000538125.5:c.1219A>G	ENSP00000437449.1:p.Lys407Glu
ENST00000541794.5:c.1078A>G	ENSP00000442167.1:p.Lys360Glu
ENST00000544971.5:c.1011+1976A>G	ENSP00000443611.1:n.1011+1976A>G
NM_001177428.1:c.1078A>G	NP_001170899.1:p.Lys360Glu
NM_001177431.1:c.1117A>G	NP_001170902.1:p.Lys373Glu
NM_001177433.1:c.1011+1976A>G	NP_001170904.1:n.1011+1976A>G
NM_021625.4:c.1219A>G , LRG_372t1:c.1219A>G	NP_067638.3:p.Lys407Glu
NM_147204.2:c.1152+1976A>G	NP_671737.1:n.1152+1976A>G
XM_005253918.1:c.1219A>G	XP_005253975.1:p.Lys407Glu
XM_011538630.1:c.1219A>G	XP_011536932.1:p.Lys407Glu
XM_011538631.1:c.1078A>G	XP_011536933.1:p.Lys360Glu
XM_011538632.1:c.1152+1976A>G	XP_011536934.1:n.1152+1976A>G
XM_011538633.1:c.1011+1976A>G	XP_011536935.1:n.1011+1976A>G
XM_011538634.1:c.1219A>G	XP_011536936.1:p.Lys407Glu
XM_011538635.1:c.1372A>G	XP_011536937.1:p.Lys458Glu
XM_011538636.1:c.1372A>G	XP_011536938.1:p.Lys458Glu
XM_011538630.2:c.1372A>G	XP_011536932.2:p.Lys458Glu
XM_011538631.2:c.1231A>G	XP_011536933.2:p.Lys411Glu
XM_011538632.2:c.1305+1976A>G	XP_011536934.2:n.1305+1976A>G
XM_011538633.2:c.1164+1976A>G	XP_011536935.2:n.1164+1976A>G
XM_011538634.2:c.1372A>G	XP_011536936.2:p.Lys458Glu
XM_011538635.2:c.1372A>G	XP_011536937.1:p.Lys458Glu
XM_017019774.1:c.1219A>G	XP_016875263.1:p.Lys407Glu
NM_021625.5:c.1219A>G MANE Select	NP_067638.3:p.Lys407Glu