Canonical Allele Identifier: CA8319286
Gene: KIF1C HGNC NCBI

Linked Data

dbSNP Id: rs746521760
gnomAD v2: 17-4925778-G-A
gnomAD v3: 17-5022483-G-A
gnomAD v4: 17-5022483-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022483G>A , CM000679.2:g.5022483G>A GRCh38
NC_000017.10:g.4925778G>A , CM000679.1:g.4925778G>A GRCh37
NC_000017.9:g.4866502G>A NCBI36
NG_034137.1:g.29536G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2402G>A MANE Select ENSP00000320821.5:p.Arg801Gln
ENST00000320785.9:c.2402G>A ENSP00000320821.5:p.Arg801Gln
NM_006612.5:c.2402G>A NP_006603.2:p.Arg801Gln
XM_005256424.1:c.2402G>A XP_005256481.1:p.Arg801Gln
XM_005256424.2:c.2402G>A XP_005256481.1:p.Arg801Gln
NM_006612.6:c.2402G>A MANE Select NP_006603.2:p.Arg801Gln