Canonical Allele Identifier: CA1139662860

Gene: TRPV4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109783476G>A , CM000674.2:g.109783476G>A	GRCh38
NC_000012.11:g.110221281G>A , CM000674.1:g.110221281G>A	GRCh37
NC_000012.10:g.108705664G>A	NCBI36
NG_017090.1:g.54932C>T , LRG_372:g.54932C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021625.5:c.*145C>T MANE Select	NP_067638.3:n.*145C>T
ENST00000261740.7:c.*145C>T MANE Select	ENSP00000261740.2:n.*145C>T
NM_001177428.1:c.*145C>T	NP_001170899.1:n.*145C>T
NM_001177431.1:c.2659C>T	NP_001170902.1:n.2659C>T
NM_001177433.1:c.*145C>T	NP_001170904.1:n.*145C>T
NM_021625.4:c.*145C>T , LRG_372t1:c.*145C>T	NP_067638.3:n.*145C>T
NM_147204.2:c.*145C>T	NP_671737.1:n.*145C>T
ENST00000261740.6:c.*145C>T	ENSP00000261740.2:n.*145C>T
ENST00000418703.6:c.*145C>T	ENSP00000406191.2:n.*145C>T
ENST00000418703.7:c.*145C>T	ENSP00000406191.2:n.*145C>T
ENST00000674908.1:c.*1848C>T	ENSP00000502012.1:n.*1848C>T
ENST00000675670.1:c.*145C>T	ENSP00000502135.1:n.*145C>T
XM_005253918.1:c.*145C>T	XP_005253975.1:n.*145C>T
XM_011538630.1:c.*145C>T	XP_011536932.1:n.*145C>T
XM_011538630.2:c.*145C>T	XP_011536932.2:n.*145C>T
XM_011538631.1:c.*145C>T	XP_011536933.1:n.*145C>T
XM_011538631.2:c.*145C>T	XP_011536933.2:n.*145C>T
XM_011538632.1:c.*145C>T	XP_011536934.1:n.*145C>T
XM_011538632.2:c.*145C>T	XP_011536934.2:n.*145C>T
XM_011538633.1:c.*145C>T	XP_011536935.1:n.*145C>T
XM_011538633.2:c.*145C>T	XP_011536935.2:n.*145C>T
XM_017019774.1:c.*145C>T	XP_016875263.1:n.*145C>T