Canonical Allele Identifier: CA397314168
Gene: KIF1C HGNC NCBI

Linked Data

ClinVar Variation Id: 964685
ClinVar RCV Id: RCV001238953
dbSNP Id: rs1393424251
gnomAD v2: 17-4925753-G-A
gnomAD v3: 17-5022458-G-A
gnomAD v4: 17-5022458-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022458G>A , CM000679.2:g.5022458G>A GRCh38
NC_000017.10:g.4925753G>A , CM000679.1:g.4925753G>A GRCh37
NC_000017.9:g.4866477G>A NCBI36
NG_034137.1:g.29511G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2377G>A MANE Select ENSP00000320821.5:p.Gly793Arg
ENST00000320785.9:c.2377G>A ENSP00000320821.5:p.Gly793Arg
NM_006612.5:c.2377G>A NP_006603.2:p.Gly793Arg
XM_005256424.1:c.2377G>A XP_005256481.1:p.Gly793Arg
XM_005256424.2:c.2377G>A XP_005256481.1:p.Gly793Arg
NM_006612.6:c.2377G>A MANE Select NP_006603.2:p.Gly793Arg