Canonical Allele Identifier: CA2368040008
Community Standard Title: NM_004975.4(KCNB1):c.1153C= (p.Pro385=)
Gene: KCNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49374407G= , CM000682.2:g.49374407G= GRCh38
NC_000020.10:g.47990944G= , CM000682.1:g.47990944G= GRCh37
NC_000020.9:g.47424351G= NCBI36
NG_041781.1:g.113238C=
NG_041781.2:g.113238C=

Transcript Alleles

HGVS Amino-acid Change
NM_004975.4:c.1153C= MANE Select NP_004966.1:p.Pro385=
ENST00000371741.6:c.1153C= MANE Select ENSP00000360806.3:p.Pro385=
NM_004975.2:c.1153C= NP_004966.1:p.Pro385=
NM_004975.3:c.1153C= NP_004966.1:p.Pro385=
ENST00000371741.5:c.1153C= ENSP00000360806.3:p.Pro385=
ENST00000635465.1:c.1153C= ENSP00000489193.1:p.Pro385=
ENST00000635878.1:c.97-75024C= ENSP00000489908.1:n.97-75024C=
ENST00000637341.1:n.206+42383G=
XM_006723784.2:c.1153C= XP_006723847.1:p.Pro385=
XM_006723784.3:c.1153C= XP_006723847.1:p.Pro385=
XM_011528799.1:c.1153C= XP_011527101.1:p.Pro385=
XM_011528799.2:c.1153C= XP_011527101.1:p.Pro385=
XR_001754659.1:n.156+42383G=