Canonical Allele Identifier: CA397314915
Gene: KIF1C HGNC NCBI

Linked Data

ClinVar Variation Id: 2154053
ClinVar RCV Id: RCV003081593
gnomAD v4: 17-5022549-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022549A>T , CM000679.2:g.5022549A>T GRCh38
NC_000017.10:g.4925844A>T , CM000679.1:g.4925844A>T GRCh37
NC_000017.9:g.4866568A>T NCBI36
NG_034137.1:g.29602A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2468A>T MANE Select ENSP00000320821.5:p.Glu823Val
ENST00000320785.9:c.2468A>T ENSP00000320821.5:p.Glu823Val
NM_006612.5:c.2468A>T NP_006603.2:p.Glu823Val
XM_005256424.1:c.2468A>T XP_005256481.1:p.Glu823Val
XM_005256424.2:c.2468A>T XP_005256481.1:p.Glu823Val
NM_006612.6:c.2468A>T MANE Select NP_006603.2:p.Glu823Val