Canonical Allele Identifier: CA386648627

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 433144
• ClinVar RCV Id: RCV000498304
• dbSNP Id: rs1555204455
• MyVariant Identifiers: chr12:g.110221563G>C (hg19) ; chr12:g.109783758G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109783758G>C , CM000674.2:g.109783758G>C	GRCh38
NC_000012.11:g.110221563G>C , CM000674.1:g.110221563G>C	GRCh37
NC_000012.10:g.108705946G>C	NCBI36
NG_017090.1:g.54650C>G , LRG_372:g.54650C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.2479C>G MANE Select	ENSP00000261740.2:p.Pro827Ala
ENST00000418703.7:c.2479C>G	ENSP00000406191.2:p.Pro827Ala
ENST00000674908.1:c.*1566C>G	ENSP00000502012.1:n.*1566C>G
ENST00000675670.1:c.2479C>G	ENSP00000502135.1:p.Pro827Ala
ENST00000261740.6:c.2479C>G	ENSP00000261740.2:p.Pro827Ala
ENST00000418703.6:c.2479C>G	ENSP00000406191.2:p.Pro827Ala
ENST00000536838.1:c.2377C>G	ENSP00000444336.1:p.Pro793Ala
ENST00000537083.5:c.2299C>G	ENSP00000442738.1:p.Pro767Ala
ENST00000538125.5:c.*862C>G	ENSP00000437449.1:n.*862C>G
ENST00000541794.5:c.2338C>G	ENSP00000442167.1:p.Pro780Ala
ENST00000544971.5:c.2158C>G	ENSP00000443611.1:p.Pro720Ala
NM_001177428.1:c.2338C>G	NP_001170899.1:p.Pro780Ala
NM_001177431.1:c.2377C>G	NP_001170902.1:p.Pro793Ala
NM_001177433.1:c.2158C>G	NP_001170904.1:p.Pro720Ala
NM_021625.4:c.2479C>G , LRG_372t1:c.2479C>G	NP_067638.3:p.Pro827Ala
NM_147204.2:c.2299C>G	NP_671737.1:p.Pro767Ala
XM_005253918.1:c.2479C>G	XP_005253975.1:p.Pro827Ala
XM_011538630.1:c.2479C>G	XP_011536932.1:p.Pro827Ala
XM_011538631.1:c.2338C>G	XP_011536933.1:p.Pro780Ala
XM_011538632.1:c.2299C>G	XP_011536934.1:p.Pro767Ala
XM_011538633.1:c.2158C>G	XP_011536935.1:p.Pro720Ala
XM_011538630.2:c.2632C>G	XP_011536932.2:p.Pro878Ala
XM_011538631.2:c.2491C>G	XP_011536933.2:p.Pro831Ala
XM_011538632.2:c.2452C>G	XP_011536934.2:p.Pro818Ala
XM_011538633.2:c.2311C>G	XP_011536935.2:p.Pro771Ala
XM_017019774.1:c.2479C>G	XP_016875263.1:p.Pro827Ala
NM_021625.5:c.2479C>G MANE Select	NP_067638.3:p.Pro827Ala