Canonical Allele Identifier: CA397345923

Linked Data

dbSNP Id: rs1299067327
gnomAD v2: 17-4905810-A-G
gnomAD v4: 17-5002515-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5002515A>G , CM000679.2:g.5002515A>G GRCh38
NC_000017.10:g.4905810A>G , CM000679.1:g.4905810A>G GRCh37
NC_000017.9:g.4846534A>G NCBI36
NG_034137.1:g.9568A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.481A>G (KIF1C) MANE Select ENSP00000320821.5:p.Lys161Glu
ENST00000320785.9:c.481A>G (KIF1C) ENSP00000320821.5:p.Lys161Glu
NM_006612.5:c.481A>G (KIF1C) NP_006603.2:p.Lys161Glu
XM_005256424.1:c.481A>G (KIF1C) XP_005256481.1:p.Lys161Glu
XM_005256424.2:c.481A>G (KIF1C) XP_005256481.1:p.Lys161Glu
XM_024450745.1:c.-39+3567T>C (INCA1) XP_024306513.1:n.-39+3567T>C
NM_006612.6:c.481A>G (KIF1C) MANE Select NP_006603.2:p.Lys161Glu