Canonical Allele Identifier: CA8319317
Gene: KIF1C HGNC NCBI

Linked Data

dbSNP Id: rs769739540
gnomAD v2: 17-4925914-G-C
gnomAD v4: 17-5022619-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022619G>C , CM000679.2:g.5022619G>C GRCh38
NC_000017.10:g.4925914G>C , CM000679.1:g.4925914G>C GRCh37
NC_000017.9:g.4866638G>C NCBI36
NG_034137.1:g.29672G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2538G>C MANE Select ENSP00000320821.5:p.Glu846Asp
ENST00000320785.9:c.2538G>C ENSP00000320821.5:p.Glu846Asp
NM_006612.5:c.2538G>C NP_006603.2:p.Glu846Asp
XM_005256424.1:c.2538G>C XP_005256481.1:p.Glu846Asp
XM_005256424.2:c.2538G>C XP_005256481.1:p.Glu846Asp
NM_006612.6:c.2538G>C MANE Select NP_006603.2:p.Glu846Asp