Canonical Allele Identifier: CA8319312
Gene: KIF1C HGNC NCBI

Linked Data

ClinVar Variation Id: 578726
ClinVar RCV Id: RCV000701825
dbSNP Id: rs780729030
gnomAD v2: 17-4925898-C-T
gnomAD v3: 17-5022603-C-T
gnomAD v4: 17-5022603-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022603C>T , CM000679.2:g.5022603C>T GRCh38
NC_000017.10:g.4925898C>T , CM000679.1:g.4925898C>T GRCh37
NC_000017.9:g.4866622C>T NCBI36
NG_034137.1:g.29656C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2522C>T MANE Select ENSP00000320821.5:p.Thr841Met
ENST00000320785.9:c.2522C>T ENSP00000320821.5:p.Thr841Met
NM_006612.5:c.2522C>T NP_006603.2:p.Thr841Met
XM_005256424.1:c.2522C>T XP_005256481.1:p.Thr841Met
XM_005256424.2:c.2522C>T XP_005256481.1:p.Thr841Met
NM_006612.6:c.2522C>T MANE Select NP_006603.2:p.Thr841Met