Canonical Allele Identifier: CA9902912

Gene: KCNB1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_004975.4:c.2540G>C MANE Select	NP_004966.1:p.Gly847Ala
ENST00000371741.6:c.2540G>C MANE Select	ENSP00000360806.3:p.Gly847Ala
NM_004975.2:c.2540G>C	NP_004966.1:p.Gly847Ala
NM_004975.3:c.2540G>C	NP_004966.1:p.Gly847Ala
ENST00000371741.5:c.2540G>C	ENSP00000360806.3:p.Gly847Ala
ENST00000635465.1:c.2540G>C	ENSP00000489193.1:p.Gly847Ala
ENST00000635878.1:c.97-73637G>C	ENSP00000489908.1:n.97-73637G>C
ENST00000637131.1:c.84G>C
ENST00000637341.1:n.206+40996C>G
XM_006723784.2:c.2540G>C	XP_006723847.1:p.Gly847Ala
XM_006723784.3:c.2540G>C	XP_006723847.1:p.Gly847Ala
XM_011528799.1:c.2540G>C	XP_011527101.1:p.Gly847Ala
XM_011528799.2:c.2540G>C	XP_011527101.1:p.Gly847Ala
XR_001754659.1:n.156+40996C>G