Canonical Allele Identifier: CA10632031

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 307120
• ClinVar RCV Id: RCV000278281 ; RCV000302781 ; RCV000337978 ; RCV000351420 ; RCV000372883 ; RCV000394145
• dbSNP Id: rs886048939
• gnomAD v2: 12-110221375-C-T
• gnomAD v3: 12-109783570-C-T
• gnomAD v4: 12-109783570-C-T
• MyVariant Identifiers: chr12:g.110221375C>T (hg19) ; chr12:g.109783570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109783570C>T , CM000674.2:g.109783570C>T	GRCh38
NC_000012.11:g.110221375C>T , CM000674.1:g.110221375C>T	GRCh37
NC_000012.10:g.108705758C>T	NCBI36
NG_017090.1:g.54838G>A , LRG_372:g.54838G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.*51G>A MANE Select	ENSP00000261740.2:n.*51G>A
ENST00000418703.7:c.*51G>A	ENSP00000406191.2:n.*51G>A
ENST00000674908.1:c.*1754G>A	ENSP00000502012.1:n.*1754G>A
ENST00000675670.1:c.*51G>A	ENSP00000502135.1:n.*51G>A
ENST00000261740.6:c.*51G>A	ENSP00000261740.2:n.*51G>A
ENST00000418703.6:c.*51G>A	ENSP00000406191.2:n.*51G>A
ENST00000538125.5:c.*1050G>A	ENSP00000437449.1:n.*1050G>A
NM_001177428.1:c.*51G>A	NP_001170899.1:n.*51G>A
NM_001177431.1:c.2565G>A	NP_001170902.1:n.2565G>A
NM_001177433.1:c.*51G>A	NP_001170904.1:n.*51G>A
NM_021625.4:c.*51G>A , LRG_372t1:c.*51G>A	NP_067638.3:n.*51G>A
NM_147204.2:c.*51G>A	NP_671737.1:n.*51G>A
XM_005253918.1:c.*51G>A	XP_005253975.1:n.*51G>A
XM_011538630.1:c.*51G>A	XP_011536932.1:n.*51G>A
XM_011538631.1:c.*51G>A	XP_011536933.1:n.*51G>A
XM_011538632.1:c.*51G>A	XP_011536934.1:n.*51G>A
XM_011538633.1:c.*51G>A	XP_011536935.1:n.*51G>A
XM_011538630.2:c.*51G>A	XP_011536932.2:n.*51G>A
XM_011538631.2:c.*51G>A	XP_011536933.2:n.*51G>A
XM_011538632.2:c.*51G>A	XP_011536934.2:n.*51G>A
XM_011538633.2:c.*51G>A	XP_011536935.2:n.*51G>A
XM_017019774.1:c.*51G>A	XP_016875263.1:n.*51G>A
NM_021625.5:c.*51G>A MANE Select	NP_067638.3:n.*51G>A