Canonical Allele Identifier: CA386655325

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 536867
• ClinVar RCV Id: RCV000645554
• dbSNP Id: rs267607146
• MyVariant Identifiers: chr12:g.110238471G>T (hg19) ; chr12:g.109800666G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109800666G>T , CM000674.2:g.109800666G>T	GRCh38
NC_000012.11:g.110238471G>T , CM000674.1:g.110238471G>T	GRCh37
NC_000012.10:g.108722854G>T	NCBI36
NG_017090.1:g.37742C>A , LRG_372:g.37742C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.805C>A MANE Select	ENSP00000261740.2:p.Arg269Ser
ENST00000418703.7:c.805C>A	ENSP00000406191.2:p.Arg269Ser
ENST00000674908.1:c.834C>A	ENSP00000502012.1:p.Pro278=
ENST00000675533.1:n.836C>A
ENST00000675670.1:c.805C>A	ENSP00000502135.1:p.Arg269Ser
ENST00000676376.1:n.836C>A
ENST00000261740.6:c.805C>A	ENSP00000261740.2:p.Arg269Ser
ENST00000418703.6:c.805C>A	ENSP00000406191.2:p.Arg269Ser
ENST00000536838.1:c.703C>A	ENSP00000444336.1:p.Arg235Ser
ENST00000537083.5:c.805C>A	ENSP00000442738.1:p.Arg269Ser
ENST00000538125.5:c.805C>A	ENSP00000437449.1:p.Arg269Ser
ENST00000541794.5:c.713-1754C>A	ENSP00000442167.1:n.713-1754C>A
ENST00000544971.5:c.713-1754C>A	ENSP00000443611.1:n.713-1754C>A
NM_001177428.1:c.713-1754C>A	NP_001170899.1:n.713-1754C>A
NM_001177431.1:c.703C>A	NP_001170902.1:p.Arg235Ser
NM_001177433.1:c.713-1754C>A	NP_001170904.1:n.713-1754C>A
NM_021625.4:c.805C>A , LRG_372t1:c.805C>A	NP_067638.3:p.Arg269Ser
NM_147204.2:c.805C>A	NP_671737.1:p.Arg269Ser
XM_005253918.1:c.805C>A	XP_005253975.1:p.Arg269Ser
XM_011538630.1:c.805C>A	XP_011536932.1:p.Arg269Ser
XM_011538631.1:c.713-1754C>A	XP_011536933.1:n.713-1754C>A
XM_011538632.1:c.805C>A	XP_011536934.1:p.Arg269Ser
XM_011538633.1:c.713-1754C>A	XP_011536935.1:n.713-1754C>A
XM_011538634.1:c.805C>A	XP_011536936.1:p.Arg269Ser
XM_011538635.1:c.958C>A	XP_011536937.1:p.Arg320Ser
XM_011538636.1:c.958C>A	XP_011536938.1:p.Arg320Ser
XM_011538630.2:c.958C>A	XP_011536932.2:p.Arg320Ser
XM_011538631.2:c.866-1754C>A	XP_011536933.2:n.866-1754C>A
XM_011538632.2:c.958C>A	XP_011536934.2:p.Arg320Ser
XM_011538633.2:c.866-1754C>A	XP_011536935.2:n.866-1754C>A
XM_011538634.2:c.958C>A	XP_011536936.2:p.Arg320Ser
XM_011538635.2:c.958C>A	XP_011536937.1:p.Arg320Ser
XM_017019774.1:c.805C>A	XP_016875263.1:p.Arg269Ser
NM_021625.5:c.805C>A MANE Select	NP_067638.3:p.Arg269Ser