Canonical Allele Identifier: CA481723967

Gene: TRPV4

Linked Data

• gnomAD v4: 12-109783762-C-A
• MyVariant Identifiers: chr12:g.110221567C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109783762C>A , CM000674.2:g.109783762C>A	GRCh38
NC_000012.11:g.110221567C>A , CM000674.1:g.110221567C>A	GRCh37
NC_000012.10:g.108705950C>A	NCBI36
NG_017090.1:g.54646G>T , LRG_372:g.54646G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261740.7:c.2475G>T MANE Select	ENSP00000261740.2:p.Val825=
ENST00000418703.7:c.2475G>T	ENSP00000406191.2:p.Val825=
ENST00000674908.1:c.*1562G>T	ENSP00000502012.1:n.*1562G>T
ENST00000675670.1:c.2475G>T	ENSP00000502135.1:p.Val825=
ENST00000261740.6:c.2475G>T	ENSP00000261740.2:p.Val825=
ENST00000418703.6:c.2475G>T	ENSP00000406191.2:p.Val825=
ENST00000536838.1:c.2373G>T	ENSP00000444336.1:p.Val791=
ENST00000537083.5:c.2295G>T	ENSP00000442738.1:p.Val765=
ENST00000538125.5:c.*858G>T	ENSP00000437449.1:n.*858G>T
ENST00000541794.5:c.2334G>T	ENSP00000442167.1:p.Val778=
ENST00000544971.5:c.2154G>T	ENSP00000443611.1:p.Val718=
NM_001177428.1:c.2334G>T	NP_001170899.1:p.Val778=
NM_001177431.1:c.2373G>T	NP_001170902.1:p.Val791=
NM_001177433.1:c.2154G>T	NP_001170904.1:p.Val718=
NM_021625.4:c.2475G>T , LRG_372t1:c.2475G>T	NP_067638.3:p.Val825=
NM_147204.2:c.2295G>T	NP_671737.1:p.Val765=
XM_005253918.1:c.2475G>T	XP_005253975.1:p.Val825=
XM_011538630.1:c.2475G>T	XP_011536932.1:p.Val825=
XM_011538631.1:c.2334G>T	XP_011536933.1:p.Val778=
XM_011538632.1:c.2295G>T	XP_011536934.1:p.Val765=
XM_011538633.1:c.2154G>T	XP_011536935.1:p.Val718=
XM_011538630.2:c.2628G>T	XP_011536932.2:p.Val876=
XM_011538631.2:c.2487G>T	XP_011536933.2:p.Val829=
XM_011538632.2:c.2448G>T	XP_011536934.2:p.Val816=
XM_011538633.2:c.2307G>T	XP_011536935.2:p.Val769=
XM_017019774.1:c.2475G>T	XP_016875263.1:p.Val825=
NM_021625.5:c.2475G>T MANE Select	NP_067638.3:p.Val825=