Canonical Allele Identifier: CA10632030

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 307119
• ClinVar RCV Id: RCV000290451 ; RCV000296456 ; RCV000325598 ; RCV000331520 ; RCV000386006 ; RCV000384716
• dbSNP Id: rs552478250
• gnomAD v2: 12-110221327-G-A
• gnomAD v3: 12-109783522-G-A
• gnomAD v4: 12-109783522-G-A
• MyVariant Identifiers: chr12:g.110221327G>A (hg19) ; chr12:g.109783522G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109783522G>A , CM000674.2:g.109783522G>A	GRCh38
NC_000012.11:g.110221327G>A , CM000674.1:g.110221327G>A	GRCh37
NC_000012.10:g.108705710G>A	NCBI36
NG_017090.1:g.54886C>T , LRG_372:g.54886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.*99C>T MANE Select	ENSP00000261740.2:n.*99C>T
ENST00000418703.7:c.*99C>T	ENSP00000406191.2:n.*99C>T
ENST00000674908.1:c.*1802C>T	ENSP00000502012.1:n.*1802C>T
ENST00000675670.1:c.*99C>T	ENSP00000502135.1:n.*99C>T
ENST00000261740.6:c.*99C>T	ENSP00000261740.2:n.*99C>T
ENST00000418703.6:c.*99C>T	ENSP00000406191.2:n.*99C>T
NM_001177428.1:c.*99C>T	NP_001170899.1:n.*99C>T
NM_001177431.1:c.2613C>T	NP_001170902.1:n.2613C>T
NM_001177433.1:c.*99C>T	NP_001170904.1:n.*99C>T
NM_021625.4:c.*99C>T , LRG_372t1:c.*99C>T	NP_067638.3:n.*99C>T
NM_147204.2:c.*99C>T	NP_671737.1:n.*99C>T
XM_005253918.1:c.*99C>T	XP_005253975.1:n.*99C>T
XM_011538630.1:c.*99C>T	XP_011536932.1:n.*99C>T
XM_011538631.1:c.*99C>T	XP_011536933.1:n.*99C>T
XM_011538632.1:c.*99C>T	XP_011536934.1:n.*99C>T
XM_011538633.1:c.*99C>T	XP_011536935.1:n.*99C>T
XM_011538630.2:c.*99C>T	XP_011536932.2:n.*99C>T
XM_011538631.2:c.*99C>T	XP_011536933.2:n.*99C>T
XM_011538632.2:c.*99C>T	XP_011536934.2:n.*99C>T
XM_011538633.2:c.*99C>T	XP_011536935.2:n.*99C>T
XM_017019774.1:c.*99C>T	XP_016875263.1:n.*99C>T
NM_021625.5:c.*99C>T MANE Select	NP_067638.3:n.*99C>T