Canonical Allele Identifier: CA6779887

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 261418
• ClinVar RCV Id: RCV000250619 ; RCV000286155 ; RCV000321387 ; RCV000327125 ; RCV000380592 ; RCV000381330 ; RCV000475684
• dbSNP Id: rs115373018
• ExAC: 12:110221592 A / C
• gnomAD v2: 12-110221592-A-C
• gnomAD v3: 12-109783787-A-C
• gnomAD v4: 12-109783787-A-C
• MyVariant Identifiers: chr12:g.110221592A>C (hg19) ; chr12:g.109783787A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109783787A>C , CM000674.2:g.109783787A>C	GRCh38
NC_000012.11:g.110221592A>C , CM000674.1:g.110221592A>C	GRCh37
NC_000012.10:g.108705975A>C	NCBI36
NG_017090.1:g.54621T>G , LRG_372:g.54621T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261740.7:c.2459-9T>G MANE Select	ENSP00000261740.2:n.2459-9T>G
ENST00000418703.7:c.2459-9T>G	ENSP00000406191.2:n.2459-9T>G
ENST00000674908.1:c.*1546-9T>G	ENSP00000502012.1:n.*1546-9T>G
ENST00000675670.1:c.2459-9T>G	ENSP00000502135.1:n.2459-9T>G
ENST00000261740.6:c.2459-9T>G	ENSP00000261740.2:n.2459-9T>G
ENST00000418703.6:c.2459-9T>G	ENSP00000406191.2:n.2459-9T>G
ENST00000536838.1:c.2357-9T>G	ENSP00000444336.1:n.2357-9T>G
ENST00000537083.5:c.2279-9T>G	ENSP00000442738.1:n.2279-9T>G
ENST00000538125.5:c.*842-9T>G	ENSP00000437449.1:n.*842-9T>G
ENST00000541794.5:c.2318-9T>G	ENSP00000442167.1:n.2318-9T>G
ENST00000544971.5:c.2138-9T>G	ENSP00000443611.1:n.2138-9T>G
NM_001177428.1:c.2318-9T>G	NP_001170899.1:n.2318-9T>G
NM_001177431.1:c.2357-9T>G	NP_001170902.1:n.2357-9T>G
NM_001177433.1:c.2138-9T>G	NP_001170904.1:n.2138-9T>G
NM_021625.4:c.2459-9T>G , LRG_372t1:c.2459-9T>G	NP_067638.3:n.2459-9T>G
NM_147204.2:c.2279-9T>G	NP_671737.1:n.2279-9T>G
XM_005253918.1:c.2459-9T>G	XP_005253975.1:n.2459-9T>G
XM_011538630.1:c.2459-9T>G	XP_011536932.1:n.2459-9T>G
XM_011538631.1:c.2318-9T>G	XP_011536933.1:n.2318-9T>G
XM_011538632.1:c.2279-9T>G	XP_011536934.1:n.2279-9T>G
XM_011538633.1:c.2138-9T>G	XP_011536935.1:n.2138-9T>G
XM_011538630.2:c.2612-9T>G	XP_011536932.2:n.2612-9T>G
XM_011538631.2:c.2471-9T>G	XP_011536933.2:n.2471-9T>G
XM_011538632.2:c.2432-9T>G	XP_011536934.2:n.2432-9T>G
XM_011538633.2:c.2291-9T>G	XP_011536935.2:n.2291-9T>G
XM_017019774.1:c.2459-9T>G	XP_016875263.1:n.2459-9T>G
NM_021625.5:c.2459-9T>G MANE Select	NP_067638.3:n.2459-9T>G