Canonical Allele Identifier: CA315179089

Gene: KCNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49373020C>T , CM000682.2:g.49373020C>T	GRCh38
NC_000020.10:g.47989557C>T , CM000682.1:g.47989557C>T	GRCh37
NC_000020.9:g.47422964C>T	NCBI36
NG_041781.1:g.114625G>A
NG_041781.2:g.114625G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004975.4:c.2540G>A MANE Select	NP_004966.1:p.Gly847Glu
ENST00000371741.6:c.2540G>A MANE Select	ENSP00000360806.3:p.Gly847Glu
NM_004975.2:c.2540G>A	NP_004966.1:p.Gly847Glu
NM_004975.3:c.2540G>A	NP_004966.1:p.Gly847Glu
ENST00000371741.5:c.2540G>A	ENSP00000360806.3:p.Gly847Glu
ENST00000635465.1:c.2540G>A	ENSP00000489193.1:p.Gly847Glu
ENST00000635878.1:c.97-73637G>A	ENSP00000489908.1:n.97-73637G>A
ENST00000637131.1:c.84G>A
ENST00000637341.1:n.206+40996C>T
XM_006723784.2:c.2540G>A	XP_006723847.1:p.Gly847Glu
XM_006723784.3:c.2540G>A	XP_006723847.1:p.Gly847Glu
XM_011528799.1:c.2540G>A	XP_011527101.1:p.Gly847Glu
XM_011528799.2:c.2540G>A	XP_011527101.1:p.Gly847Glu
XR_001754659.1:n.156+40996C>T