Canonical Allele Identifier: CA352853744

Gene: CAMKV

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49859458C>G , CM000665.2:g.49859458C>G	GRCh38
NC_000003.11:g.49896891C>G , CM000665.1:g.49896891C>G	GRCh37
NC_000003.10:g.49871895C>G	NCBI36
NG_046695.1:g.2102G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477224.6:c.1366G>C MANE Select	ENSP00000419195.1:p.Ala456Pro
ENST00000296471.11:c.1282G>C	ENSP00000296471.6:p.Ala428Pro
ENST00000463537.5:c.1161G>C	ENSP00000417614.1:p.Arg387Ser
ENST00000466940.5:c.1144G>C	ENSP00000420724.1:p.Ala382Pro
ENST00000467248.5:c.1141G>C	ENSP00000420053.1:p.Ala381Pro
ENST00000475665.5:n.1687G>C
ENST00000477224.5:c.1366G>C	ENSP00000419195.1:p.Ala456Pro
ENST00000487726.5:c.*947G>C	ENSP00000420139.1:n.*947G>C
ENST00000488336.5:c.1273G>C	ENSP00000418809.1:p.Ala425Pro
ENST00000620470.4:c.1282G>C	ENSP00000484045.1:p.Ala428Pro
NM_024046.3:c.1366G>C	NP_076951.2:p.Ala456Pro
XM_005265478.1:c.1273G>C	XP_005265535.1:p.Ala425Pro
NM_001320147.1:c.1273G>C	NP_001307076.1:p.Ala425Pro
NM_024046.4:c.1366G>C	NP_076951.2:p.Ala456Pro
NM_024046.5:c.1366G>C MANE Select	NP_076951.2:p.Ala456Pro
NM_001320147.2:c.1273G>C	NP_001307076.1:p.Ala425Pro