Canonical Allele Identifier: CA409010581
Community Standard Title: NM_004975.4(KCNB1):c.2128T>A (p.Cys710Ser)
Gene: KCNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49373432A>T , CM000682.2:g.49373432A>T GRCh38
NC_000020.10:g.47989969A>T , CM000682.1:g.47989969A>T GRCh37
NC_000020.9:g.47423376A>T NCBI36
NG_041781.1:g.114213T>A
NG_041781.2:g.114213T>A

Transcript Alleles

HGVS Amino-acid Change
NM_004975.4:c.2128T>A MANE Select NP_004966.1:p.Cys710Ser
ENST00000371741.6:c.2128T>A MANE Select ENSP00000360806.3:p.Cys710Ser
NM_004975.2:c.2128T>A NP_004966.1:p.Cys710Ser
NM_004975.3:c.2128T>A NP_004966.1:p.Cys710Ser
ENST00000371741.5:c.2128T>A ENSP00000360806.3:p.Cys710Ser
ENST00000635465.1:c.2128T>A ENSP00000489193.1:p.Cys710Ser
ENST00000635878.1:c.97-74049T>A ENSP00000489908.1:n.97-74049T>A
ENST00000637341.1:n.206+41408A>T
XM_006723784.2:c.2128T>A XP_006723847.1:p.Cys710Ser
XM_006723784.3:c.2128T>A XP_006723847.1:p.Cys710Ser
XM_011528799.1:c.2128T>A XP_011527101.1:p.Cys710Ser
XM_011528799.2:c.2128T>A XP_011527101.1:p.Cys710Ser
XR_001754659.1:n.156+41408A>T