Canonical Allele Identifier: CA511017619
Community Standard Title: NM_004975.4(KCNB1):c.456C>G (p.Ala152=)
Gene: KCNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49482025G>C , CM000682.2:g.49482025G>C GRCh38
NC_000020.10:g.48098562G>C , CM000682.1:g.48098562G>C GRCh37
NC_000020.9:g.47531969G>C NCBI36
NG_041781.1:g.5620C>G
NG_041781.2:g.5620C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004975.4:c.456C>G MANE Select NP_004966.1:p.Ala152=
ENST00000371741.6:c.456C>G MANE Select ENSP00000360806.3:p.Ala152=
NM_004975.2:c.456C>G NP_004966.1:p.Ala152=
NM_004975.3:c.456C>G NP_004966.1:p.Ala152=
ENST00000371741.5:c.456C>G ENSP00000360806.3:p.Ala152=
ENST00000635465.1:c.456C>G ENSP00000489193.1:p.Ala152=
XM_006723784.2:c.456C>G XP_006723847.1:p.Ala152=
XM_006723784.3:c.456C>G XP_006723847.1:p.Ala152=
XM_011528799.1:c.456C>G XP_011527101.1:p.Ala152=
XM_011528799.2:c.456C>G XP_011527101.1:p.Ala152=