Canonical Allele Identifier: CA6779937

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 514677
• ClinVar RCV Id: RCV000601420 ; RCV000865067 ; RCV002456386
• dbSNP Id: rs116685089
• ExAC: 12:110222191 G / A
• gnomAD v2: 12-110222191-G-A
• gnomAD v3: 12-109784386-G-A
• gnomAD v4: 12-109784386-G-A
• MyVariant Identifiers: chr12:g.110222191G>A (hg19) ; chr12:g.109784386G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109784386G>A , CM000674.2:g.109784386G>A	GRCh38
NC_000012.11:g.110222191G>A , CM000674.1:g.110222191G>A	GRCh37
NC_000012.10:g.108706574G>A	NCBI36
NG_017090.1:g.54022C>T , LRG_372:g.54022C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.2388C>T MANE Select	ENSP00000261740.2:p.Asn796=
ENST00000418703.7:c.2388C>T	ENSP00000406191.2:p.Asn796=
ENST00000674908.1:c.*1475C>T	ENSP00000502012.1:n.*1475C>T
ENST00000675670.1:c.2388C>T	ENSP00000502135.1:p.Asn796=
ENST00000261740.6:c.2388C>T	ENSP00000261740.2:p.Asn796=
ENST00000418703.6:c.2388C>T	ENSP00000406191.2:p.Asn796=
ENST00000536838.1:c.2286C>T	ENSP00000444336.1:p.Asn762=
ENST00000537083.5:c.2208C>T	ENSP00000442738.1:p.Asn736=
ENST00000538125.5:c.*771C>T	ENSP00000437449.1:n.*771C>T
ENST00000541794.5:c.2247C>T	ENSP00000442167.1:p.Asn749=
ENST00000544971.5:c.2067C>T	ENSP00000443611.1:p.Asn689=
NM_001177428.1:c.2247C>T	NP_001170899.1:p.Asn749=
NM_001177431.1:c.2286C>T	NP_001170902.1:p.Asn762=
NM_001177433.1:c.2067C>T	NP_001170904.1:p.Asn689=
NM_021625.4:c.2388C>T , LRG_372t1:c.2388C>T	NP_067638.3:p.Asn796=
NM_147204.2:c.2208C>T	NP_671737.1:p.Asn736=
XM_005253918.1:c.2388C>T	XP_005253975.1:p.Asn796=
XM_011538630.1:c.2388C>T	XP_011536932.1:p.Asn796=
XM_011538631.1:c.2247C>T	XP_011536933.1:p.Asn749=
XM_011538632.1:c.2208C>T	XP_011536934.1:p.Asn736=
XM_011538633.1:c.2067C>T	XP_011536935.1:p.Asn689=
XM_011538630.2:c.2541C>T	XP_011536932.2:p.Asn847=
XM_011538631.2:c.2400C>T	XP_011536933.2:p.Asn800=
XM_011538632.2:c.2361C>T	XP_011536934.2:p.Asn787=
XM_011538633.2:c.2220C>T	XP_011536935.2:p.Asn740=
XM_017019774.1:c.2388C>T	XP_016875263.1:p.Asn796=
NM_021625.5:c.2388C>T MANE Select	NP_067638.3:p.Asn796=