Canonical Allele Identifier: CA10588700

Gene: KCNB1

Linked Data

• ClinVar Variation Id: 265207
• ClinVar RCV Id: RCV000255550 ; RCV000528443 ; RCV000782147 ; RCV001267282
• dbSNP Id: rs886039396
• gnomAD v2: 20-47991163-G-A
• COSMIC: COSM149195
• MyVariant Identifiers: chr20:g.47991163G>A (hg19) ; chr20:g.49374626G>A (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49374626G>A , CM000682.2:g.49374626G>A	GRCh38
NC_000020.10:g.47991163G>A , CM000682.1:g.47991163G>A	GRCh37
NC_000020.9:g.47424570G>A	NCBI36
NG_041781.1:g.113019C>T
NG_041781.2:g.113019C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371741.6:c.934C>T MANE Select	ENSP00000360806.3:p.Arg312Cys
ENST00000635878.1:c.97-75243C>T	ENSP00000489908.1:n.97-75243C>T
ENST00000637341.1:n.206+42602G>A
ENST00000371741.5:c.934C>T	ENSP00000360806.3:p.Arg312Cys
ENST00000635465.1:c.934C>T	ENSP00000489193.1:p.Arg312Cys
NM_004975.2:c.934C>T	NP_004966.1:p.Arg312Cys
XM_006723784.2:c.934C>T	XP_006723847.1:p.Arg312Cys
XM_011528799.1:c.934C>T	XP_011527101.1:p.Arg312Cys
NM_004975.3:c.934C>T	NP_004966.1:p.Arg312Cys
XM_006723784.3:c.934C>T	XP_006723847.1:p.Arg312Cys
XM_011528799.2:c.934C>T	XP_011527101.1:p.Arg312Cys
XR_001754659.1:n.156+42602G>A
NM_004975.4:c.934C>T MANE Select	NP_004966.1:p.Arg312Cys