Canonical Allele Identifier: CA1488339
Gene: KIF26B HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.245686793C>T
GRCh37 chr1:g.245850095C>T
gnomAD v2:
1:245850095 C / T
gnomAD v3:
1:245686793 C / T
gnomAD v4:
chr1-245686793-C-T
Joint Max Group AF 0.25795159 (NFE)
Genomes Max Group AF 0.25814499 (NFE)
Exomes Max Group AF 0.25776717 (NFE)
ClinVar RCV:
RCV003974770
ClinVar Variation:
3059799
dbSNP:
871840
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.245686793C>T , CM000663.2:g.245686793C>T GRCh38
NC_000001.10:g.245850095C>T , CM000663.1:g.245850095C>T GRCh37
NC_000001.9:g.243916718C>T NCBI36
NG_053061.1:g.536809C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407071.7:c.3810C>T MANE Select ENSP00000385545.2:p.Asp1270=
ENST00000366518.4:c.2667C>T ENSP00000355475.4:p.Asp889=
ENST00000407071.6:c.3810C>T ENSP00000385545.2:p.Asp1270=
ENST00000483253.1:n.1741C>T
NM_018012.3:c.3810C>T NP_060482.2:p.Asp1270=
XM_011544214.1:c.3372C>T XP_011542516.1:p.Asp1124=
XM_011544215.1:c.3210C>T XP_011542517.1:p.Asp1070=
XM_011544216.1:c.3210C>T XP_011542518.1:p.Asp1070=
XM_011544217.1:c.3210C>T XP_011542519.1:p.Asp1070=
XM_011544218.1:c.2667C>T XP_011542520.1:p.Asp889=
NM_018012.4:c.3810C>T MANE Select NP_060482.2:p.Asp1270=
XR_001737764.2:n.1715-3410G>A
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