Canonical Allele Identifier: CA10607313
Gene: KIF1B HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.10380226T>C
GRCh37 chr1:g.10440284T>C
gnomAD v2:
1:10440284 T / C
gnomAD v3:
1:10380226 T / C
gnomAD v4:
chr1-10380226-T-C
Joint Max Group AF 0.01099054 (MID)
Genomes Max Group AF 0.00207789 (SAS)
Exomes Max Group AF 0.00586352 (MID)
ClinVar RCV:
RCV000301066
RCV003422209
ClinVar Variation:
291645
dbSNP:
551392566
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10380226T>C , CM000663.2:g.10380226T>C GRCh38
NC_000001.10:g.10440284T>C , CM000663.1:g.10440284T>C GRCh37
NC_000001.9:g.10362871T>C NCBI36
NG_008069.1:g.174521T>C , LRG_252:g.174521T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000676179.1:c.*3639T>C MANE Select ENSP00000502065.1:n.*3639T>C
ENST00000377081.5:c.*1824T>C ENSP00000366284.1:n.*1824T>C
ENST00000377086.5:c.*3639T>C ENSP00000366290.1:n.*3639T>C
ENST00000620295.2:c.7254T>C ENSP00000478500.1:n.7254T>C
ENST00000622724.3:c.7218T>C ENSP00000480063.1:n.7218T>C
NM_015074.3:c.*3639T>C , LRG_252t1:c.*3639T>C NP_055889.2:n.*3639T>C
NM_001365951.1:c.*3639T>C NP_001352880.1:n.*3639T>C
NM_001365952.1:c.*3639T>C NP_001352881.1:n.*3639T>C
NM_001365951.3:c.*3639T>C MANE Select NP_001352880.1:n.*3639T>C
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