Canonical Allele Identifier: CA291402

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 137726
• ClinVar RCV Id: RCV000125618 ; RCV000330115 ; RCV000364968 ; RCV000275076 ; RCV000276187 ; RCV000316275 ; RCV000515055 ; RCV000988903 ; RCV001172931 ; RCV002426680 ; RCV002277274
• dbSNP Id: rs55728855
• ExAC: 12:110221524 C / T
• gnomAD v2: 12-110221524-C-T
• gnomAD v3: 12-109783719-C-T
• gnomAD v4: 12-109783719-C-T
• MyVariant Identifiers: chr12:g.110221524C>T (hg19) ; chr12:g.109783719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109783719C>T , CM000674.2:g.109783719C>T	GRCh38
NC_000012.11:g.110221524C>T , CM000674.1:g.110221524C>T	GRCh37
NC_000012.10:g.108705907C>T	NCBI36
NG_017090.1:g.54689G>A , LRG_372:g.54689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.2518G>A MANE Select	ENSP00000261740.2:p.Glu840Lys
ENST00000418703.7:c.2518G>A	ENSP00000406191.2:p.Glu840Lys
ENST00000674908.1:c.*1605G>A	ENSP00000502012.1:n.*1605G>A
ENST00000675670.1:c.2518G>A	ENSP00000502135.1:p.Glu840Lys
ENST00000261740.6:c.2518G>A	ENSP00000261740.2:p.Glu840Lys
ENST00000418703.6:c.2518G>A	ENSP00000406191.2:p.Glu840Lys
ENST00000536838.1:c.2416G>A	ENSP00000444336.1:p.Glu806Lys
ENST00000537083.5:c.2338G>A	ENSP00000442738.1:p.Glu780Lys
ENST00000538125.5:c.*901G>A	ENSP00000437449.1:n.*901G>A
ENST00000541794.5:c.2377G>A	ENSP00000442167.1:p.Glu793Lys
ENST00000544971.5:c.2197G>A	ENSP00000443611.1:p.Glu733Lys
NM_001177428.1:c.2377G>A	NP_001170899.1:p.Glu793Lys
NM_001177431.1:c.2416G>A	NP_001170902.1:p.Glu806Lys
NM_001177433.1:c.2197G>A	NP_001170904.1:p.Glu733Lys
NM_021625.4:c.2518G>A , LRG_372t1:c.2518G>A	NP_067638.3:p.Glu840Lys
NM_147204.2:c.2338G>A	NP_671737.1:p.Glu780Lys
XM_005253918.1:c.2518G>A	XP_005253975.1:p.Glu840Lys
XM_011538630.1:c.2518G>A	XP_011536932.1:p.Glu840Lys
XM_011538631.1:c.2377G>A	XP_011536933.1:p.Glu793Lys
XM_011538632.1:c.2338G>A	XP_011536934.1:p.Glu780Lys
XM_011538633.1:c.2197G>A	XP_011536935.1:p.Glu733Lys
XM_011538630.2:c.2671G>A	XP_011536932.2:p.Glu891Lys
XM_011538631.2:c.2530G>A	XP_011536933.2:p.Glu844Lys
XM_011538632.2:c.2491G>A	XP_011536934.2:p.Glu831Lys
XM_011538633.2:c.2350G>A	XP_011536935.2:p.Glu784Lys
XM_017019774.1:c.2518G>A	XP_016875263.1:p.Glu840Lys
NM_021625.5:c.2518G>A MANE Select	NP_067638.3:p.Glu840Lys