Canonical Allele Identifier: CA409011416

Gene: KCNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49373614T>C , CM000682.2:g.49373614T>C	GRCh38
NC_000020.10:g.47990151T>C , CM000682.1:g.47990151T>C	GRCh37
NC_000020.9:g.47423558T>C	NCBI36
NG_041781.1:g.114031A>G
NG_041781.2:g.114031A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004975.4:c.1946A>G MANE Select	NP_004966.1:p.His649Arg
ENST00000371741.6:c.1946A>G MANE Select	ENSP00000360806.3:p.His649Arg
NM_004975.2:c.1946A>G	NP_004966.1:p.His649Arg
NM_004975.3:c.1946A>G	NP_004966.1:p.His649Arg
ENST00000371741.5:c.1946A>G	ENSP00000360806.3:p.His649Arg
ENST00000635465.1:c.1946A>G	ENSP00000489193.1:p.His649Arg
ENST00000635878.1:c.97-74231A>G	ENSP00000489908.1:n.97-74231A>G
ENST00000637341.1:n.206+41590T>C
XM_006723784.2:c.1946A>G	XP_006723847.1:p.His649Arg
XM_006723784.3:c.1946A>G	XP_006723847.1:p.His649Arg
XM_011528799.1:c.1946A>G	XP_011527101.1:p.His649Arg
XM_011528799.2:c.1946A>G	XP_011527101.1:p.His649Arg
XR_001754659.1:n.156+41590T>C