Canonical Allele Identifier: CA397315986
Gene: KIF1C HGNC NCBI

Linked Data

ClinVar Variation Id: 2137164
ClinVar RCV Id: RCV003062415
dbSNP Id: rs755285892
gnomAD v2: 17-4925976-G-C
gnomAD v4: 17-5022681-G-C
MyVariant Identifiers: chr17:g.4925976G>C (hg19) chr17:g.5022681G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022681G>C , CM000679.2:g.5022681G>C GRCh38
NC_000017.10:g.4925976G>C , CM000679.1:g.4925976G>C GRCh37
NC_000017.9:g.4866700G>C NCBI36
NG_034137.1:g.29734G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2600G>C MANE Select ENSP00000320821.5:p.Arg867Pro
ENST00000320785.9:c.2600G>C ENSP00000320821.5:p.Arg867Pro
NM_006612.5:c.2600G>C NP_006603.2:p.Arg867Pro
XM_005256424.1:c.2600G>C XP_005256481.1:p.Arg867Pro
XM_005256424.2:c.2600G>C XP_005256481.1:p.Arg867Pro
NM_006612.6:c.2600G>C MANE Select NP_006603.2:p.Arg867Pro
Search 100 bp 5'
Search 100 bp 3'