Canonical Allele Identifier: CA352856647

Gene: CAMKV

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49859668C>T , CM000665.2:g.49859668C>T	GRCh38
NC_000003.11:g.49897101C>T , CM000665.1:g.49897101C>T	GRCh37
NC_000003.10:g.49872105C>T	NCBI36
NG_046695.1:g.1892G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477224.6:c.1156G>A MANE Select	ENSP00000419195.1:p.Ala386Thr
ENST00000296471.11:c.1072G>A	ENSP00000296471.6:p.Ala358Thr
ENST00000463537.5:c.951G>A	ENSP00000417614.1:p.Val317=
ENST00000466940.5:c.934G>A	ENSP00000420724.1:p.Ala312Thr
ENST00000467248.5:c.931G>A	ENSP00000420053.1:p.Ala311Thr
ENST00000475665.5:n.1477G>A
ENST00000477224.5:c.1156G>A	ENSP00000419195.1:p.Ala386Thr
ENST00000487726.5:c.*737G>A	ENSP00000420139.1:n.*737G>A
ENST00000488336.5:c.1063G>A	ENSP00000418809.1:p.Ala355Thr
ENST00000620470.4:c.1072G>A	ENSP00000484045.1:p.Ala358Thr
NM_024046.3:c.1156G>A	NP_076951.2:p.Ala386Thr
XM_005265478.1:c.1063G>A	XP_005265535.1:p.Ala355Thr
NM_001320147.1:c.1063G>A	NP_001307076.1:p.Ala355Thr
NM_024046.4:c.1156G>A	NP_076951.2:p.Ala386Thr
NM_024046.5:c.1156G>A MANE Select	NP_076951.2:p.Ala386Thr
NM_001320147.2:c.1063G>A	NP_001307076.1:p.Ala355Thr