Canonical Allele Identifier: CA287185922
Gene: KIF1C HGNC NCBI

Linked Data

dbSNP Id: rs779215813
gnomAD v2: 17-4925570-C-T
gnomAD v4: 17-5022275-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022275C>T , CM000679.2:g.5022275C>T GRCh38
NC_000017.10:g.4925570C>T , CM000679.1:g.4925570C>T GRCh37
NC_000017.9:g.4866294C>T NCBI36
NG_034137.1:g.29328C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320785.10:c.2194C>T MANE Select ENSP00000320821.5:p.Arg732Cys
ENST00000320785.9:c.2194C>T ENSP00000320821.5:p.Arg732Cys
NM_006612.5:c.2194C>T NP_006603.2:p.Arg732Cys
XM_005256424.1:c.2194C>T XP_005256481.1:p.Arg732Cys
XM_005256424.2:c.2194C>T XP_005256481.1:p.Arg732Cys
NM_006612.6:c.2194C>T MANE Select NP_006603.2:p.Arg732Cys