Canonical Allele Identifier: CA497539088
Gene: KIF1C HGNC NCBI

Linked Data

ClinVar Variation Id: 703959
ClinVar RCV Id: RCV000873817
dbSNP Id: rs1218461610
gnomAD v2: 17-4925992-C-A
gnomAD v3: 17-5022697-C-A
gnomAD v4: 17-5022697-C-A
MyVariant Identifiers: chr17:g.4925992C>A (hg19) chr17:g.5022697C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022697C>A , CM000679.2:g.5022697C>A GRCh38
NC_000017.10:g.4925992C>A , CM000679.1:g.4925992C>A GRCh37
NC_000017.9:g.4866716C>A NCBI36
NG_034137.1:g.29750C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2616C>A MANE Select ENSP00000320821.5:p.Ile872=
ENST00000320785.9:c.2616C>A ENSP00000320821.5:p.Ile872=
NM_006612.5:c.2616C>A NP_006603.2:p.Ile872=
XM_005256424.1:c.2616C>A XP_005256481.1:p.Ile872=
XM_005256424.2:c.2616C>A XP_005256481.1:p.Ile872=
NM_006612.6:c.2616C>A MANE Select NP_006603.2:p.Ile872=
Search 100 bp 5'
Search 100 bp 3'