Canonical Allele Identifier: CA998520237

Gene: KIF1B

Linked Data

• dbSNP Id: rs1638954846
• gnomAD v3: 1-10378867-A-G
• gnomAD v4: 1-10378867-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10378867A>G , CM000663.2:g.10378867A>G	GRCh38
NC_000001.10:g.10438925A>G , CM000663.1:g.10438925A>G	GRCh37
NC_000001.9:g.10361512A>G	NCBI36
NG_008069.1:g.173162A>G , LRG_252:g.173162A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000676179.1:c.*2280A>G MANE Select	ENSP00000502065.1:n.*2280A>G
ENST00000377081.5:c.*465A>G	ENSP00000366284.1:n.*465A>G
ENST00000377086.5:c.*2280A>G	ENSP00000366290.1:n.*2280A>G
ENST00000620295.2:c.5895A>G	ENSP00000478500.1:n.5895A>G
ENST00000622724.3:c.5859A>G	ENSP00000480063.1:n.5859A>G
NM_015074.3:c.*2280A>G , LRG_252t1:c.*2280A>G	NP_055889.2:n.*2280A>G
NM_001365951.1:c.*2280A>G	NP_001352880.1:n.*2280A>G
NM_001365952.1:c.*2280A>G	NP_001352881.1:n.*2280A>G
NM_001365951.3:c.*2280A>G MANE Select	NP_001352880.1:n.*2280A>G