Canonical Allele Identifier: CA8318590

Linked Data

dbSNP Id: rs746419418
gnomAD v2: 17-4905855-C-T
gnomAD v4: 17-5002560-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5002560C>T , CM000679.2:g.5002560C>T GRCh38
NC_000017.10:g.4905855C>T , CM000679.1:g.4905855C>T GRCh37
NC_000017.9:g.4846579C>T NCBI36
NG_034137.1:g.9613C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.526C>T (KIF1C) MANE Select ENSP00000320821.5:p.Pro176Ser
ENST00000320785.9:c.526C>T (KIF1C) ENSP00000320821.5:p.Pro176Ser
NM_006612.5:c.526C>T (KIF1C) NP_006603.2:p.Pro176Ser
XM_005256424.1:c.526C>T (KIF1C) XP_005256481.1:p.Pro176Ser
XM_005256424.2:c.526C>T (KIF1C) XP_005256481.1:p.Pro176Ser
XM_024450745.1:c.-39+3522G>A (INCA1) XP_024306513.1:n.-39+3522G>A
NM_006612.6:c.526C>T (KIF1C) MANE Select NP_006603.2:p.Pro176Ser