Canonical Allele Identifier: CA9903098

Gene: KCNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49374075C>T , CM000682.2:g.49374075C>T	GRCh38
NC_000020.10:g.47990612C>T , CM000682.1:g.47990612C>T	GRCh37
NC_000020.9:g.47424019C>T	NCBI36
NG_041781.1:g.113570G>A
NG_041781.2:g.113570G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004975.4:c.1485G>A MANE Select	NP_004966.1:p.Leu495=
ENST00000371741.6:c.1485G>A MANE Select	ENSP00000360806.3:p.Leu495=
NM_004975.2:c.1485G>A	NP_004966.1:p.Leu495=
NM_004975.3:c.1485G>A	NP_004966.1:p.Leu495=
ENST00000371741.5:c.1485G>A	ENSP00000360806.3:p.Leu495=
ENST00000635465.1:c.1485G>A	ENSP00000489193.1:p.Leu495=
ENST00000635878.1:c.97-74692G>A	ENSP00000489908.1:n.97-74692G>A
ENST00000637341.1:n.206+42051C>T
XM_006723784.2:c.1485G>A	XP_006723847.1:p.Leu495=
XM_006723784.3:c.1485G>A	XP_006723847.1:p.Leu495=
XM_011528799.1:c.1485G>A	XP_011527101.1:p.Leu495=
XM_011528799.2:c.1485G>A	XP_011527101.1:p.Leu495=
XR_001754659.1:n.156+42051C>T