Canonical Allele Identifier: CA951717966

Gene: TRPV4

Linked Data

• dbSNP Id: rs1890095791
• gnomAD v3: 12-109792318-C-T
• gnomAD v4: 12-109792318-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109792318C>T , CM000674.2:g.109792318C>T	GRCh38
NC_000012.11:g.110230123C>T , CM000674.1:g.110230123C>T	GRCh37
NC_000012.10:g.108714506C>T	NCBI36
NG_017090.1:g.46090G>A , LRG_372:g.46090G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261740.7:c.1891+45G>A MANE Select	ENSP00000261740.2:n.1891+45G>A
ENST00000418703.7:c.1891+45G>A	ENSP00000406191.2:n.1891+45G>A
ENST00000674908.1:c.*978+45G>A	ENSP00000502012.1:n.*978+45G>A
ENST00000675533.1:n.1922+45G>A
ENST00000675670.1:c.1891+45G>A	ENSP00000502135.1:n.1891+45G>A
ENST00000676376.1:n.1922+45G>A
ENST00000261740.6:c.1891+45G>A	ENSP00000261740.2:n.1891+45G>A
ENST00000418703.6:c.1891+45G>A	ENSP00000406191.2:n.1891+45G>A
ENST00000536838.1:c.1789+45G>A	ENSP00000444336.1:n.1789+45G>A
ENST00000537083.5:c.1711+45G>A	ENSP00000442738.1:n.1711+45G>A
ENST00000538125.5:c.*274+45G>A	ENSP00000437449.1:n.*274+45G>A
ENST00000541794.5:c.1750+45G>A	ENSP00000442167.1:n.1750+45G>A
ENST00000544971.5:c.1570+45G>A	ENSP00000443611.1:n.1570+45G>A
NM_001177428.1:c.1750+45G>A	NP_001170899.1:n.1750+45G>A
NM_001177431.1:c.1789+45G>A	NP_001170902.1:n.1789+45G>A
NM_001177433.1:c.1570+45G>A	NP_001170904.1:n.1570+45G>A
NM_021625.4:c.1891+45G>A , LRG_372t1:c.1891+45G>A	NP_067638.3:n.1891+45G>A
NM_147204.2:c.1711+45G>A	NP_671737.1:n.1711+45G>A
XM_005253918.1:c.1891+45G>A	XP_005253975.1:n.1891+45G>A
XM_011538630.1:c.1891+45G>A	XP_011536932.1:n.1891+45G>A
XM_011538631.1:c.1750+45G>A	XP_011536933.1:n.1750+45G>A
XM_011538632.1:c.1711+45G>A	XP_011536934.1:n.1711+45G>A
XM_011538633.1:c.1570+45G>A	XP_011536935.1:n.1570+45G>A
XM_011538634.1:c.1891+45G>A	XP_011536936.1:n.1891+45G>A
XM_011538635.1:c.2044+45G>A	XP_011536937.1:n.2044+45G>A
XM_011538630.2:c.2044+45G>A	XP_011536932.2:n.2044+45G>A
XM_011538631.2:c.1903+45G>A	XP_011536933.2:n.1903+45G>A
XM_011538632.2:c.1864+45G>A	XP_011536934.2:n.1864+45G>A
XM_011538633.2:c.1723+45G>A	XP_011536935.2:n.1723+45G>A
XM_011538634.2:c.2044+45G>A	XP_011536936.2:n.2044+45G>A
XM_011538635.2:c.2044+45G>A	XP_011536937.1:n.2044+45G>A
XM_017019774.1:c.1891+45G>A	XP_016875263.1:n.1891+45G>A
NM_021625.5:c.1891+45G>A MANE Select	NP_067638.3:n.1891+45G>A