Canonical Allele Identifier: CA397315393
Gene: KIF1C HGNC NCBI

Linked Data

dbSNP Id: rs1415492201
gnomAD v2: 17-4925910-A-G
gnomAD v3: 17-5022615-A-G
gnomAD v4: 17-5022615-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022615A>G , CM000679.2:g.5022615A>G GRCh38
NC_000017.10:g.4925910A>G , CM000679.1:g.4925910A>G GRCh37
NC_000017.9:g.4866634A>G NCBI36
NG_034137.1:g.29668A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2534A>G MANE Select ENSP00000320821.5:p.Gln845Arg
ENST00000320785.9:c.2534A>G ENSP00000320821.5:p.Gln845Arg
NM_006612.5:c.2534A>G NP_006603.2:p.Gln845Arg
XM_005256424.1:c.2534A>G XP_005256481.1:p.Gln845Arg
XM_005256424.2:c.2534A>G XP_005256481.1:p.Gln845Arg
NM_006612.6:c.2534A>G MANE Select NP_006603.2:p.Gln845Arg