Canonical Allele Identifier: CA8319326
Gene: KIF1C HGNC NCBI

Linked Data

ClinVar Variation Id: 1962654
ClinVar RCV Id: RCV002726295
dbSNP Id: rs764833076
ExAC: 17:4925960 C / T
gnomAD v2: 17-4925960-C-T
gnomAD v3: 17-5022665-C-T
gnomAD v4: 17-5022665-C-T
COSMIC: COSM5852981
MyVariant Identifiers: chr17:g.4925960C>T (hg19) chr17:g.5022665C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022665C>T , CM000679.2:g.5022665C>T GRCh38
NC_000017.10:g.4925960C>T , CM000679.1:g.4925960C>T GRCh37
NC_000017.9:g.4866684C>T NCBI36
NG_034137.1:g.29718C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2584C>T MANE Select ENSP00000320821.5:p.Arg862Trp
ENST00000320785.9:c.2584C>T ENSP00000320821.5:p.Arg862Trp
NM_006612.5:c.2584C>T NP_006603.2:p.Arg862Trp
XM_005256424.1:c.2584C>T XP_005256481.1:p.Arg862Trp
XM_005256424.2:c.2584C>T XP_005256481.1:p.Arg862Trp
NM_006612.6:c.2584C>T MANE Select NP_006603.2:p.Arg862Trp
Search 100 bp 5'
Search 100 bp 3'