Canonical Allele Identifier: CA6779849

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 423065
• ClinVar RCV Id: RCV000482103 ; RCV000816397 ; RCV002431412
• dbSNP Id: rs746597270
• ExAC: 12:110221457 CG / C
• gnomAD v2: 12-110221457-CG-C
• gnomAD v3: 12-109783652-CG-C
• gnomAD v4: 12-109783652-CG-C
• MyVariant Identifiers: chr12:g.110221458del (hg19) ; chr12:g.109783654del (hg38) ; chr12:g.109783653del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109783657del , CM000674.2:g.109783657del	GRCh38
NC_000012.11:g.110221462del , CM000674.1:g.110221462del	GRCh37
NC_000012.10:g.108705845del	NCBI36
NG_017090.1:g.54755del , LRG_372:g.54755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.2584del MANE Select	ENSP00000261740.2:p.Arg862AlafsTer25
ENST00000418703.7:c.2584del	ENSP00000406191.2:p.Arg862AlafsTer25
ENST00000674908.1:c.*1671del	ENSP00000502012.1:n.*1671del
ENST00000675670.1:c.2584del	ENSP00000502135.1:p.Arg862AlafsTer25
ENST00000261740.6:c.2584del	ENSP00000261740.2:p.Arg862AlafsTer25
ENST00000418703.6:c.2584del	ENSP00000406191.2:p.Arg862AlafsTer25
ENST00000536838.1:c.2482del	ENSP00000444336.1:p.Arg828AlafsTer?
ENST00000537083.5:c.2404del	ENSP00000442738.1:p.Arg802AlafsTer?
ENST00000538125.5:c.*967del	ENSP00000437449.1:n.*967del
ENST00000541794.5:c.2443del	ENSP00000442167.1:p.Arg815AlafsTer?
ENST00000544971.5:c.2263del	ENSP00000443611.1:p.Arg755AlafsTer?
NM_001177428.1:c.2443del	NP_001170899.1:p.Arg815AlafsTer25
NM_001177431.1:c.2482del	NP_001170902.1:p.Arg828AlafsTer25
NM_001177433.1:c.2263del	NP_001170904.1:p.Arg755AlafsTer25
NM_021625.4:c.2584del , LRG_372t1:c.2584del	NP_067638.3:p.Arg862AlafsTer25
NM_147204.2:c.2404del	NP_671737.1:p.Arg802AlafsTer25
XM_005253918.1:c.2584del	XP_005253975.1:p.Arg862AlafsTer25
XM_011538630.1:c.2584del	XP_011536932.1:p.Arg862AlafsTer25
XM_011538631.1:c.2443del	XP_011536933.1:p.Arg815AlafsTer25
XM_011538632.1:c.2404del	XP_011536934.1:p.Arg802AlafsTer25
XM_011538633.1:c.2263del	XP_011536935.1:p.Arg755AlafsTer25
XM_011538630.2:c.2737del	XP_011536932.2:p.Arg913AlafsTer25
XM_011538631.2:c.2596del	XP_011536933.2:p.Arg866AlafsTer25
XM_011538632.2:c.2557del	XP_011536934.2:p.Arg853AlafsTer25
XM_011538633.2:c.2416del	XP_011536935.2:p.Arg806AlafsTer25
XM_017019774.1:c.2584del	XP_016875263.1:p.Arg862AlafsTer25
NM_021625.5:c.2584del MANE Select	NP_067638.3:p.Arg862AlafsTer25