Canonical Allele Identifier: CA397345968

Linked Data

dbSNP Id: rs1188956517
gnomAD v2: 17-4905835-G-A
gnomAD v4: 17-5002540-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5002540G>A , CM000679.2:g.5002540G>A GRCh38
NC_000017.10:g.4905835G>A , CM000679.1:g.4905835G>A GRCh37
NC_000017.9:g.4846559G>A NCBI36
NG_034137.1:g.9593G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.506G>A (KIF1C) MANE Select ENSP00000320821.5:p.Arg169Gln
ENST00000320785.9:c.506G>A (KIF1C) ENSP00000320821.5:p.Arg169Gln
NM_006612.5:c.506G>A (KIF1C) NP_006603.2:p.Arg169Gln
XM_005256424.1:c.506G>A (KIF1C) XP_005256481.1:p.Arg169Gln
XM_005256424.2:c.506G>A (KIF1C) XP_005256481.1:p.Arg169Gln
XM_024450745.1:c.-39+3542C>T (INCA1) XP_024306513.1:n.-39+3542C>T
NM_006612.6:c.506G>A (KIF1C) MANE Select NP_006603.2:p.Arg169Gln