Canonical Allele Identifier: CA397313868
Gene: KIF1C HGNC NCBI

Linked Data

dbSNP Id: rs1975111346
gnomAD v3: 17-5022417-T-C
gnomAD v4: 17-5022417-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022417T>C , CM000679.2:g.5022417T>C GRCh38
NC_000017.10:g.4925712T>C , CM000679.1:g.4925712T>C GRCh37
NC_000017.9:g.4866436T>C NCBI36
NG_034137.1:g.29470T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2336T>C MANE Select ENSP00000320821.5:p.Met779Thr
ENST00000320785.9:c.2336T>C ENSP00000320821.5:p.Met779Thr
NM_006612.5:c.2336T>C NP_006603.2:p.Met779Thr
XM_005256424.1:c.2336T>C XP_005256481.1:p.Met779Thr
XM_005256424.2:c.2336T>C XP_005256481.1:p.Met779Thr
NM_006612.6:c.2336T>C MANE Select NP_006603.2:p.Met779Thr