Canonical Allele Identifier: CA408950365

Gene: KCNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49482183G>A , CM000682.2:g.49482183G>A	GRCh38
NC_000020.10:g.48098720G>A , CM000682.1:g.48098720G>A	GRCh37
NC_000020.9:g.47532127G>A	NCBI36
NG_041781.1:g.5462C>T
NG_041781.2:g.5462C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004975.4:c.298C>T MANE Select	NP_004966.1:p.Arg100Cys
ENST00000371741.6:c.298C>T MANE Select	ENSP00000360806.3:p.Arg100Cys
NM_004975.2:c.298C>T	NP_004966.1:p.Arg100Cys
NM_004975.3:c.298C>T	NP_004966.1:p.Arg100Cys
ENST00000371741.5:c.298C>T	ENSP00000360806.3:p.Arg100Cys
ENST00000635465.1:c.298C>T	ENSP00000489193.1:p.Arg100Cys
XM_006723784.2:c.298C>T	XP_006723847.1:p.Arg100Cys
XM_006723784.3:c.298C>T	XP_006723847.1:p.Arg100Cys
XM_011528799.1:c.298C>T	XP_011527101.1:p.Arg100Cys
XM_011528799.2:c.298C>T	XP_011527101.1:p.Arg100Cys