Canonical Allele Identifier: CA287185849
Gene: KIF1C HGNC NCBI

Linked Data

ClinVar Variation Id: 2058661
ClinVar RCV Id: RCV002928630 RCV003250628
dbSNP Id: rs904984161
gnomAD v2: 17-4925505-G-A
gnomAD v3: 17-5022210-G-A
gnomAD v4: 17-5022210-G-A
MyVariant Identifiers: chr17:g.4925505G>A (hg19) chr17:g.5022210G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022210G>A , CM000679.2:g.5022210G>A GRCh38
NC_000017.10:g.4925505G>A , CM000679.1:g.4925505G>A GRCh37
NC_000017.9:g.4866229G>A NCBI36
NG_034137.1:g.29263G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2129G>A MANE Select ENSP00000320821.5:p.Arg710His
ENST00000320785.9:c.2129G>A ENSP00000320821.5:p.Arg710His
ENST00000573815.1:n.671G>A
NM_006612.5:c.2129G>A NP_006603.2:p.Arg710His
XM_005256424.1:c.2129G>A XP_005256481.1:p.Arg710His
XM_005256424.2:c.2129G>A XP_005256481.1:p.Arg710His
NM_006612.6:c.2129G>A MANE Select NP_006603.2:p.Arg710His
Search 100 bp 5'
Search 100 bp 3'