Canonical Allele Identifier: CA6780362

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 1466958
• ClinVar RCV Id: RCV001990645
• dbSNP Id: rs143604694
• ExAC: 12:110236508 G / A
• gnomAD v2: 12-110236508-G-A
• gnomAD v3: 12-109798703-G-A
• gnomAD v4: 12-109798703-G-A
• MyVariant Identifiers: chr12:g.110236508G>A (hg19) ; chr12:g.109798703G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109798703G>A , CM000674.2:g.109798703G>A	GRCh38
NC_000012.11:g.110236508G>A , CM000674.1:g.110236508G>A	GRCh37
NC_000012.10:g.108720891G>A	NCBI36
NG_017090.1:g.39705C>T , LRG_372:g.39705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.1063C>T MANE Select	ENSP00000261740.2:p.Arg355Cys
ENST00000418703.7:c.1063C>T	ENSP00000406191.2:p.Arg355Cys
ENST00000674908.1:c.*150C>T	ENSP00000502012.1:n.*150C>T
ENST00000675533.1:n.1094C>T
ENST00000675670.1:c.1063C>T	ENSP00000502135.1:p.Arg355Cys
ENST00000676376.1:n.1094C>T
ENST00000261740.6:c.1063C>T	ENSP00000261740.2:p.Arg355Cys
ENST00000418703.6:c.1063C>T	ENSP00000406191.2:p.Arg355Cys
ENST00000536838.1:c.961C>T	ENSP00000444336.1:p.Arg321Cys
ENST00000537083.5:c.1063C>T	ENSP00000442738.1:p.Arg355Cys
ENST00000538125.5:c.1063C>T	ENSP00000437449.1:p.Arg355Cys
ENST00000541794.5:c.922C>T	ENSP00000442167.1:p.Arg308Cys
ENST00000544971.5:c.922C>T	ENSP00000443611.1:p.Arg308Cys
NM_001177428.1:c.922C>T	NP_001170899.1:p.Arg308Cys
NM_001177431.1:c.961C>T	NP_001170902.1:p.Arg321Cys
NM_001177433.1:c.922C>T	NP_001170904.1:p.Arg308Cys
NM_021625.4:c.1063C>T , LRG_372t1:c.1063C>T	NP_067638.3:p.Arg355Cys
NM_147204.2:c.1063C>T	NP_671737.1:p.Arg355Cys
XM_005253918.1:c.1063C>T	XP_005253975.1:p.Arg355Cys
XM_011538630.1:c.1063C>T	XP_011536932.1:p.Arg355Cys
XM_011538631.1:c.922C>T	XP_011536933.1:p.Arg308Cys
XM_011538632.1:c.1063C>T	XP_011536934.1:p.Arg355Cys
XM_011538633.1:c.922C>T	XP_011536935.1:p.Arg308Cys
XM_011538634.1:c.1063C>T	XP_011536936.1:p.Arg355Cys
XM_011538635.1:c.1216C>T	XP_011536937.1:p.Arg406Cys
XM_011538636.1:c.1216C>T	XP_011536938.1:p.Arg406Cys
XM_011538630.2:c.1216C>T	XP_011536932.2:p.Arg406Cys
XM_011538631.2:c.1075C>T	XP_011536933.2:p.Arg359Cys
XM_011538632.2:c.1216C>T	XP_011536934.2:p.Arg406Cys
XM_011538633.2:c.1075C>T	XP_011536935.2:p.Arg359Cys
XM_011538634.2:c.1216C>T	XP_011536936.2:p.Arg406Cys
XM_011538635.2:c.1216C>T	XP_011536937.1:p.Arg406Cys
XM_017019774.1:c.1063C>T	XP_016875263.1:p.Arg355Cys
NM_021625.5:c.1063C>T MANE Select	NP_067638.3:p.Arg355Cys