Canonical Allele Identifier: CA10640138

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 307115
• ClinVar RCV Id: RCV000261159 ; RCV000262283 ; RCV000319664 ; RCV000323286 ; RCV000353523 ; RCV000380324
• dbSNP Id: rs538255561
• gnomAD v2: 12-110221048-C-G
• gnomAD v3: 12-109783243-C-G
• gnomAD v4: 12-109783243-C-G
• MyVariant Identifiers: chr12:g.110221048C>G (hg19) ; chr12:g.109783243C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109783243C>G , CM000674.2:g.109783243C>G	GRCh38
NC_000012.11:g.110221048C>G , CM000674.1:g.110221048C>G	GRCh37
NC_000012.10:g.108705431C>G	NCBI36
NG_017090.1:g.55165G>C , LRG_372:g.55165G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.*378G>C MANE Select	ENSP00000261740.2:n.*378G>C
ENST00000418703.7:c.*378G>C	ENSP00000406191.2:n.*378G>C
ENST00000674908.1:c.*2081G>C	ENSP00000502012.1:n.*2081G>C
ENST00000675670.1:c.*378G>C	ENSP00000502135.1:n.*378G>C
ENST00000261740.6:c.*378G>C	ENSP00000261740.2:n.*378G>C
ENST00000418703.6:c.*378G>C	ENSP00000406191.2:n.*378G>C
NM_001177428.1:c.*378G>C	NP_001170899.1:n.*378G>C
NM_001177431.1:c.2892G>C	NP_001170902.1:n.2892G>C
NM_001177433.1:c.*378G>C	NP_001170904.1:n.*378G>C
NM_021625.4:c.*378G>C , LRG_372t1:c.*378G>C	NP_067638.3:n.*378G>C
NM_147204.2:c.*378G>C	NP_671737.1:n.*378G>C
XM_005253918.1:c.*378G>C	XP_005253975.1:n.*378G>C
XM_011538630.1:c.*378G>C	XP_011536932.1:n.*378G>C
XM_011538631.1:c.*378G>C	XP_011536933.1:n.*378G>C
XM_011538632.1:c.*378G>C	XP_011536934.1:n.*378G>C
XM_011538633.1:c.*378G>C	XP_011536935.1:n.*378G>C
XM_011538630.2:c.*378G>C	XP_011536932.2:n.*378G>C
XM_011538631.2:c.*378G>C	XP_011536933.2:n.*378G>C
XM_011538632.2:c.*378G>C	XP_011536934.2:n.*378G>C
XM_011538633.2:c.*378G>C	XP_011536935.2:n.*378G>C
XM_017019774.1:c.*378G>C	XP_016875263.1:n.*378G>C
NM_021625.5:c.*378G>C MANE Select	NP_067638.3:n.*378G>C