Canonical Allele Identifier: CA2580642109

Gene: KCNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49365591G>C , CM000682.2:g.49365591G>C	GRCh38
NC_000020.10:g.47982128G>C , CM000682.1:g.47982128G>C	GRCh37
NC_000020.9:g.47415535G>C	NCBI36
NG_041781.2:g.122054C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004975.4:c.*7392C>G MANE Select	NP_004966.1:n.*7392C>G
ENST00000371741.6:c.*7392C>G MANE Select	ENSP00000360806.3:n.*7392C>G
NM_004975.3:c.*7392C>G	NP_004966.1:n.*7392C>G
ENST00000371741.5:c.*7392C>G	ENSP00000360806.3:n.*7392C>G
ENST00000635878.1:c.97-66208C>G	ENSP00000489908.1:n.97-66208C>G
ENST00000636838.1:n.610+6750C>G
ENST00000637091.1:n.223-4911G>C
ENST00000637131.1:c.763+6750C>G
ENST00000637341.1:n.206+33567G>C
ENST00000637575.1:n.430-4911G>C
XM_006723784.2:c.*7392C>G	XP_006723847.1:n.*7392C>G
XM_006723784.3:c.*7392C>G	XP_006723847.1:n.*7392C>G
XM_011528799.1:c.*7392C>G	XP_011527101.1:n.*7392C>G
XM_011528799.2:c.*7392C>G	XP_011527101.1:n.*7392C>G
XR_001754659.1:n.156+33567G>C