Canonical Allele Identifier: CA10607245
Gene: KIF1B HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.10378834G>A
GRCh37 chr1:g.10438892G>A
gnomAD v2:
1:10438892 G / A
gnomAD v3:
1:10378834 G / A
gnomAD v4:
chr1-10378834-G-A
Joint Max Group AF 0.35855376 (AMR)
Genomes Max Group AF 0.36130948 (AMR)
Exomes Max Group AF 0.33213326 (AMR)
ClinVar Allele:
275777
ClinVar RCV:
RCV000315959
ClinVar Variation:
291619
dbSNP:
1002076
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10378834G>A , CM000663.2:g.10378834G>A GRCh38
NC_000001.10:g.10438892G>A , CM000663.1:g.10438892G>A GRCh37
NC_000001.9:g.10361479G>A NCBI36
NG_008069.1:g.173129G>A , LRG_252:g.173129G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000676179.1:c.*2247G>A MANE Select ENSP00000502065.1:n.*2247G>A
ENST00000377081.5:c.*432G>A ENSP00000366284.1:n.*432G>A
ENST00000377086.5:c.*2247G>A ENSP00000366290.1:n.*2247G>A
ENST00000620295.2:c.5862G>A ENSP00000478500.1:n.5862G>A
ENST00000622724.3:c.5826G>A ENSP00000480063.1:n.5826G>A
NM_015074.3:c.*2247G>A , LRG_252t1:c.*2247G>A NP_055889.2:n.*2247G>A
NM_001365951.1:c.*2247G>A NP_001352880.1:n.*2247G>A
NM_001365952.1:c.*2247G>A NP_001352881.1:n.*2247G>A
NM_001365951.3:c.*2247G>A MANE Select NP_001352880.1:n.*2247G>A
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