Canonical Allele Identifier: CA408949489

Gene: KCNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49482040C>G , CM000682.2:g.49482040C>G	GRCh38
NC_000020.10:g.48098577C>G , CM000682.1:g.48098577C>G	GRCh37
NC_000020.9:g.47531984C>G	NCBI36
NG_041781.1:g.5605G>C
NG_041781.2:g.5605G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004975.4:c.441G>C MANE Select	NP_004966.1:p.Glu147Asp
ENST00000371741.6:c.441G>C MANE Select	ENSP00000360806.3:p.Glu147Asp
NM_004975.2:c.441G>C	NP_004966.1:p.Glu147Asp
NM_004975.3:c.441G>C	NP_004966.1:p.Glu147Asp
ENST00000371741.5:c.441G>C	ENSP00000360806.3:p.Glu147Asp
ENST00000635465.1:c.441G>C	ENSP00000489193.1:p.Glu147Asp
XM_006723784.2:c.441G>C	XP_006723847.1:p.Glu147Asp
XM_006723784.3:c.441G>C	XP_006723847.1:p.Glu147Asp
XM_011528799.1:c.441G>C	XP_011527101.1:p.Glu147Asp
XM_011528799.2:c.441G>C	XP_011527101.1:p.Glu147Asp