Canonical Allele Identifier: CA397313912
Gene: KIF1C HGNC NCBI

Linked Data

ClinVar Variation Id: 2495175
ClinVar RCV Id: RCV003211405
dbSNP Id: rs1344742800
gnomAD v2: 17-4925719-G-C
gnomAD v4: 17-5022424-G-C
MyVariant Identifiers: chr17:g.4925719G>C (hg19) chr17:g.5022424G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022424G>C , CM000679.2:g.5022424G>C GRCh38
NC_000017.10:g.4925719G>C , CM000679.1:g.4925719G>C GRCh37
NC_000017.9:g.4866443G>C NCBI36
NG_034137.1:g.29477G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2343G>C MANE Select ENSP00000320821.5:p.Glu781Asp
ENST00000320785.9:c.2343G>C ENSP00000320821.5:p.Glu781Asp
NM_006612.5:c.2343G>C NP_006603.2:p.Glu781Asp
XM_005256424.1:c.2343G>C XP_005256481.1:p.Glu781Asp
XM_005256424.2:c.2343G>C XP_005256481.1:p.Glu781Asp
NM_006612.6:c.2343G>C MANE Select NP_006603.2:p.Glu781Asp
Search 100 bp 5'
Search 100 bp 3'