Canonical Allele Identifier: CA607602075

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 520616
• ClinVar RCV Id: RCV000624553 ; RCV000779091 ; RCV002531881
• dbSNP Id: rs1191019525
• gnomAD v2: 12-110240834-TC-T
• gnomAD v3: 12-109803029-TC-T
• gnomAD v4: 12-109803029-TC-T
• MyVariant Identifiers: chr12:g.110240835del (hg19) ; chr12:g.109803030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109803032del , CM000674.2:g.109803032del	GRCh38
NC_000012.11:g.110240837del , CM000674.1:g.110240837del	GRCh37
NC_000012.10:g.108725220del	NCBI36
NG_017090.1:g.35378del , LRG_372:g.35378del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.673del MANE Select	ENSP00000261740.2:p.Glu225SerfsTer?
ENST00000418703.7:c.673del	ENSP00000406191.2:p.Glu225SerfsTer?
ENST00000674908.1:c.673del	ENSP00000502012.1:p.Glu225SerfsTer17
ENST00000675533.1:n.704del
ENST00000675670.1:c.673del	ENSP00000502135.1:p.Glu225SerfsTer?
ENST00000676376.1:n.704del
ENST00000261740.6:c.673del	ENSP00000261740.2:p.Glu225SerfsTer?
ENST00000418703.6:c.673del	ENSP00000406191.2:p.Glu225SerfsTer?
ENST00000536838.1:c.571del	ENSP00000444336.1:p.Glu191SerfsTer?
ENST00000537083.5:c.673del	ENSP00000442738.1:p.Glu225SerfsTer?
ENST00000538125.5:c.673del	ENSP00000437449.1:p.Glu225SerfsTer?
ENST00000541794.5:c.673del	ENSP00000442167.1:p.Glu225SerfsTer?
ENST00000544971.5:c.673del	ENSP00000443611.1:p.Glu225SerfsTer?
NM_001177428.1:c.673del	NP_001170899.1:p.Glu225SerfsTer?
NM_001177431.1:c.571del	NP_001170902.1:p.Glu191SerfsTer?
NM_001177433.1:c.673del	NP_001170904.1:p.Glu225SerfsTer?
NM_021625.4:c.673del , LRG_372t1:c.673del	NP_067638.3:p.Glu225SerfsTer?
NM_147204.2:c.673del	NP_671737.1:p.Glu225SerfsTer?
XM_005253918.1:c.673del	XP_005253975.1:p.Glu225SerfsTer?
XM_011538630.1:c.673del	XP_011536932.1:p.Glu225SerfsTer?
XM_011538631.1:c.673del	XP_011536933.1:p.Glu225SerfsTer?
XM_011538632.1:c.673del	XP_011536934.1:p.Glu225SerfsTer?
XM_011538633.1:c.673del	XP_011536935.1:p.Glu225SerfsTer?
XM_011538634.1:c.673del	XP_011536936.1:p.Glu225SerfsTer?
XM_011538635.1:c.826del	XP_011536937.1:p.Glu276SerfsTer?
XM_011538636.1:c.826del	XP_011536938.1:p.Glu276SerfsTer?
XM_011538630.2:c.826del	XP_011536932.2:p.Glu276SerfsTer?
XM_011538631.2:c.826del	XP_011536933.2:p.Glu276SerfsTer?
XM_011538632.2:c.826del	XP_011536934.2:p.Glu276SerfsTer?
XM_011538633.2:c.826del	XP_011536935.2:p.Glu276SerfsTer?
XM_011538634.2:c.826del	XP_011536936.2:p.Glu276SerfsTer?
XM_011538635.2:c.826del	XP_011536937.1:p.Glu276SerfsTer?
XM_017019774.1:c.673del	XP_016875263.1:p.Glu225SerfsTer?
NM_021625.5:c.673del MANE Select	NP_067638.3:p.Glu225SerfsTer?