Canonical Allele Identifier: CA397346133

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5002617C>T , CM000679.2:g.5002617C>T GRCh38
NC_000017.10:g.4905912C>T , CM000679.1:g.4905912C>T GRCh37
NC_000017.9:g.4846636C>T NCBI36
NG_034137.1:g.9670C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.583C>T (KIF1C) MANE Select ENSP00000320821.5:p.Leu195Phe
ENST00000320785.9:c.583C>T (KIF1C) ENSP00000320821.5:p.Leu195Phe
NM_006612.5:c.583C>T (KIF1C) NP_006603.2:p.Leu195Phe
XM_005256424.1:c.583C>T (KIF1C) XP_005256481.1:p.Leu195Phe
XM_005256424.2:c.583C>T (KIF1C) XP_005256481.1:p.Leu195Phe
XM_024450745.1:c.-39+3465G>A (INCA1) XP_024306513.1:n.-39+3465G>A
NM_006612.6:c.583C>T (KIF1C) MANE Select NP_006603.2:p.Leu195Phe