Canonical Allele Identifier: CA409004313

Gene: KCNB1

Linked Data

• ClinVar Variation Id: 542057
• ClinVar RCV Id: RCV000652424 ; RCV000677403 ; RCV001249559 ; RCV001565799 ; RCV003352974
• dbSNP Id: rs1555889162
• gnomAD v3: 20-49374931-G-A
• gnomAD v4: 20-49374931-G-A
• MyVariant Identifiers: chr20:g.47991468G>A (hg19) ; chr20:g.49374931G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49374931G>A , CM000682.2:g.49374931G>A	GRCh38
NC_000020.10:g.47991468G>A , CM000682.1:g.47991468G>A	GRCh37
NC_000020.9:g.47424875G>A	NCBI36
NG_041781.1:g.112714C>T
NG_041781.2:g.112714C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371741.6:c.629C>T MANE Select	ENSP00000360806.3:p.Thr210Met
ENST00000635878.1:c.97-75548C>T	ENSP00000489908.1:n.97-75548C>T
ENST00000637341.1:n.206+42907G>A
ENST00000371741.5:c.629C>T	ENSP00000360806.3:p.Thr210Met
ENST00000635210.1:n.205C>T
ENST00000635465.1:c.629C>T	ENSP00000489193.1:p.Thr210Met
NM_004975.2:c.629C>T	NP_004966.1:p.Thr210Met
XM_006723784.2:c.629C>T	XP_006723847.1:p.Thr210Met
XM_011528799.1:c.629C>T	XP_011527101.1:p.Thr210Met
NM_004975.3:c.629C>T	NP_004966.1:p.Thr210Met
XM_006723784.3:c.629C>T	XP_006723847.1:p.Thr210Met
XM_011528799.2:c.629C>T	XP_011527101.1:p.Thr210Met
XR_001754659.1:n.156+42907G>A
NM_004975.4:c.629C>T MANE Select	NP_004966.1:p.Thr210Met