Canonical Allele Identifier: CA2408172

Gene: CAMKV

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49860994C>T , CM000665.2:g.49860994C>T	GRCh38
NC_000003.11:g.49898427C>T , CM000665.1:g.49898427C>T	GRCh37
NC_000003.10:g.49873431C>T	NCBI36
NG_046695.1:g.566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477224.6:c.587G>A MANE Select	ENSP00000419195.1:p.Arg196Gln
ENST00000296471.11:c.563-150G>A	ENSP00000296471.6:n.563-150G>A
ENST00000463537.5:c.587G>A	ENSP00000417614.1:p.Arg196Gln
ENST00000466535.5:c.*115G>A	ENSP00000420766.1:n.*115G>A
ENST00000466940.5:c.458G>A	ENSP00000420724.1:p.Arg153Gln
ENST00000467248.5:c.362G>A	ENSP00000420053.1:p.Arg121Gln
ENST00000472895.5:n.979G>A
ENST00000475665.5:n.908G>A
ENST00000477224.5:c.587G>A	ENSP00000419195.1:p.Arg196Gln
ENST00000478149.5:n.31G>A
ENST00000480398.2:c.318G>A	ENSP00000420000.2:p.Ala106=
ENST00000483811.5:n.818G>A
ENST00000487726.5:c.*261G>A	ENSP00000420139.1:n.*261G>A
ENST00000488336.5:c.587G>A	ENSP00000418809.1:p.Arg196Gln
ENST00000620470.4:c.563-150G>A	ENSP00000484045.1:n.563-150G>A
NM_024046.3:c.587G>A	NP_076951.2:p.Arg196Gln
XM_005265478.1:c.587G>A	XP_005265535.1:p.Arg196Gln
NM_001320147.1:c.587G>A	NP_001307076.1:p.Arg196Gln
NM_024046.4:c.587G>A	NP_076951.2:p.Arg196Gln
NM_024046.5:c.587G>A MANE Select	NP_076951.2:p.Arg196Gln
NM_001320147.2:c.587G>A	NP_001307076.1:p.Arg196Gln