Canonical Allele Identifier: CA409015905

Gene: KCNB1

Linked Data

• MyVariant Identifiers: chr20:g.47991104C>A (hg19) ; chr20:g.49374567C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49374567C>A , CM000682.2:g.49374567C>A	GRCh38
NC_000020.10:g.47991104C>A , CM000682.1:g.47991104C>A	GRCh37
NC_000020.9:g.47424511C>A	NCBI36
NG_041781.1:g.113078G>T
NG_041781.2:g.113078G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371741.6:c.993G>T MANE Select	ENSP00000360806.3:p.Leu331Phe
ENST00000635878.1:c.97-75184G>T	ENSP00000489908.1:n.97-75184G>T
ENST00000637341.1:n.206+42543C>A
ENST00000371741.5:c.993G>T	ENSP00000360806.3:p.Leu331Phe
ENST00000635465.1:c.993G>T	ENSP00000489193.1:p.Leu331Phe
NM_004975.2:c.993G>T	NP_004966.1:p.Leu331Phe
XM_006723784.2:c.993G>T	XP_006723847.1:p.Leu331Phe
XM_011528799.1:c.993G>T	XP_011527101.1:p.Leu331Phe
NM_004975.3:c.993G>T	NP_004966.1:p.Leu331Phe
XM_006723784.3:c.993G>T	XP_006723847.1:p.Leu331Phe
XM_011528799.2:c.993G>T	XP_011527101.1:p.Leu331Phe
XR_001754659.1:n.156+42543C>A
NM_004975.4:c.993G>T MANE Select	NP_004966.1:p.Leu331Phe