Canonical Allele Identifier: CA386648912

Gene: TRPV4

Linked Data

• dbSNP Id: rs1188803988
• gnomAD v2: 12-110222224-C-T
• MyVariant Identifiers: chr12:g.110222224C>T (hg19) ; chr12:g.109784419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109784419C>T , CM000674.2:g.109784419C>T	GRCh38
NC_000012.11:g.110222224C>T , CM000674.1:g.110222224C>T	GRCh37
NC_000012.10:g.108706607C>T	NCBI36
NG_017090.1:g.53989G>A , LRG_372:g.53989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.2355G>A MANE Select	ENSP00000261740.2:p.Trp785Ter
ENST00000418703.7:c.2355G>A	ENSP00000406191.2:p.Trp785Ter
ENST00000674908.1:c.*1442G>A	ENSP00000502012.1:n.*1442G>A
ENST00000675670.1:c.2355G>A	ENSP00000502135.1:p.Trp785Ter
ENST00000261740.6:c.2355G>A	ENSP00000261740.2:p.Trp785Ter
ENST00000418703.6:c.2355G>A	ENSP00000406191.2:p.Trp785Ter
ENST00000536838.1:c.2253G>A	ENSP00000444336.1:p.Trp751Ter
ENST00000537083.5:c.2175G>A	ENSP00000442738.1:p.Trp725Ter
ENST00000538125.5:c.*738G>A	ENSP00000437449.1:n.*738G>A
ENST00000541794.5:c.2214G>A	ENSP00000442167.1:p.Trp738Ter
ENST00000544971.5:c.2034G>A	ENSP00000443611.1:p.Trp678Ter
NM_001177428.1:c.2214G>A	NP_001170899.1:p.Trp738Ter
NM_001177431.1:c.2253G>A	NP_001170902.1:p.Trp751Ter
NM_001177433.1:c.2034G>A	NP_001170904.1:p.Trp678Ter
NM_021625.4:c.2355G>A , LRG_372t1:c.2355G>A	NP_067638.3:p.Trp785Ter
NM_147204.2:c.2175G>A	NP_671737.1:p.Trp725Ter
XM_005253918.1:c.2355G>A	XP_005253975.1:p.Trp785Ter
XM_011538630.1:c.2355G>A	XP_011536932.1:p.Trp785Ter
XM_011538631.1:c.2214G>A	XP_011536933.1:p.Trp738Ter
XM_011538632.1:c.2175G>A	XP_011536934.1:p.Trp725Ter
XM_011538633.1:c.2034G>A	XP_011536935.1:p.Trp678Ter
XM_011538630.2:c.2508G>A	XP_011536932.2:p.Trp836Ter
XM_011538631.2:c.2367G>A	XP_011536933.2:p.Trp789Ter
XM_011538632.2:c.2328G>A	XP_011536934.2:p.Trp776Ter
XM_011538633.2:c.2187G>A	XP_011536935.2:p.Trp729Ter
XM_017019774.1:c.2355G>A	XP_016875263.1:p.Trp785Ter
NM_021625.5:c.2355G>A MANE Select	NP_067638.3:p.Trp785Ter