Canonical Allele Identifier: CA6780225

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 282949
• ClinVar RCV Id: RCV000273307 ; RCV000308460 ; RCV000330168 ; RCV000365568 ; RCV000382061 ; RCV000400610 ; RCV000725182 ; RCV001085943 ; RCV001174119 ; RCV003955448
• dbSNP Id: rs201815805
• ExAC: 12:110232124 G / A
• gnomAD v2: 12-110232124-G-A
• gnomAD v3: 12-109794319-G-A
• gnomAD v4: 12-109794319-G-A
• MyVariant Identifiers: chr12:g.110232124G>A (hg19) ; chr12:g.109794319G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109794319G>A , CM000674.2:g.109794319G>A	GRCh38
NC_000012.11:g.110232124G>A , CM000674.1:g.110232124G>A	GRCh37
NC_000012.10:g.108716507G>A	NCBI36
NG_017090.1:g.44089C>T , LRG_372:g.44089C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261740.7:c.1491+10C>T MANE Select	ENSP00000261740.2:n.1491+10C>T
ENST00000418703.7:c.1491+10C>T	ENSP00000406191.2:n.1491+10C>T
ENST00000674908.1:c.*578+10C>T	ENSP00000502012.1:n.*578+10C>T
ENST00000675533.1:n.1522+10C>T
ENST00000675670.1:c.1491+10C>T	ENSP00000502135.1:n.1491+10C>T
ENST00000676376.1:n.1522+10C>T
ENST00000261740.6:c.1491+10C>T	ENSP00000261740.2:n.1491+10C>T
ENST00000418703.6:c.1491+10C>T	ENSP00000406191.2:n.1491+10C>T
ENST00000536838.1:c.1389+10C>T	ENSP00000444336.1:n.1389+10C>T
ENST00000537083.5:c.1311+10C>T	ENSP00000442738.1:n.1311+10C>T
ENST00000538125.5:c.1491+10C>T	ENSP00000437449.1:n.1491+10C>T
ENST00000541794.5:c.1350+10C>T	ENSP00000442167.1:n.1350+10C>T
ENST00000544971.5:c.1170+10C>T	ENSP00000443611.1:n.1170+10C>T
NM_001177428.1:c.1350+10C>T	NP_001170899.1:n.1350+10C>T
NM_001177431.1:c.1389+10C>T	NP_001170902.1:n.1389+10C>T
NM_001177433.1:c.1170+10C>T	NP_001170904.1:n.1170+10C>T
NM_021625.4:c.1491+10C>T , LRG_372t1:c.1491+10C>T	NP_067638.3:n.1491+10C>T
NM_147204.2:c.1311+10C>T	NP_671737.1:n.1311+10C>T
XM_005253918.1:c.1491+10C>T	XP_005253975.1:n.1491+10C>T
XM_011538630.1:c.1491+10C>T	XP_011536932.1:n.1491+10C>T
XM_011538631.1:c.1350+10C>T	XP_011536933.1:n.1350+10C>T
XM_011538632.1:c.1311+10C>T	XP_011536934.1:n.1311+10C>T
XM_011538633.1:c.1170+10C>T	XP_011536935.1:n.1170+10C>T
XM_011538634.1:c.1491+10C>T	XP_011536936.1:n.1491+10C>T
XM_011538635.1:c.1644+10C>T	XP_011536937.1:n.1644+10C>T
XM_011538636.1:c.1644+10C>T	XP_011536938.1:n.1644+10C>T
XM_011538630.2:c.1644+10C>T	XP_011536932.2:n.1644+10C>T
XM_011538631.2:c.1503+10C>T	XP_011536933.2:n.1503+10C>T
XM_011538632.2:c.1464+10C>T	XP_011536934.2:n.1464+10C>T
XM_011538633.2:c.1323+10C>T	XP_011536935.2:n.1323+10C>T
XM_011538634.2:c.1644+10C>T	XP_011536936.2:n.1644+10C>T
XM_011538635.2:c.1644+10C>T	XP_011536937.1:n.1644+10C>T
XM_017019774.1:c.1491+10C>T	XP_016875263.1:n.1491+10C>T
NM_021625.5:c.1491+10C>T MANE Select	NP_067638.3:n.1491+10C>T