Canonical Allele Identifier: CA408952096
Community Standard Title: NM_004975.4(KCNB1):c.82G>A (p.Ala28Thr)
Gene: KCNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49482399C>T , CM000682.2:g.49482399C>T GRCh38
NC_000020.10:g.48098936C>T , CM000682.1:g.48098936C>T GRCh37
NC_000020.9:g.47532343C>T NCBI36
NG_041781.1:g.5246G>A
NG_041781.2:g.5246G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004975.4:c.82G>A MANE Select NP_004966.1:p.Ala28Thr
ENST00000371741.6:c.82G>A MANE Select ENSP00000360806.3:p.Ala28Thr
NM_004975.2:c.82G>A NP_004966.1:p.Ala28Thr
NM_004975.3:c.82G>A NP_004966.1:p.Ala28Thr
ENST00000371741.5:c.82G>A ENSP00000360806.3:p.Ala28Thr
ENST00000635465.1:c.82G>A ENSP00000489193.1:p.Ala28Thr
XM_006723784.2:c.82G>A XP_006723847.1:p.Ala28Thr
XM_006723784.3:c.82G>A XP_006723847.1:p.Ala28Thr
XM_011528799.1:c.82G>A XP_011527101.1:p.Ala28Thr
XM_011528799.2:c.82G>A XP_011527101.1:p.Ala28Thr