Canonical Allele Identifier: CA14369442

Linked Data

dbSNP Id: rs11658587
gnomAD v2: 17-4901982-C-T
gnomAD v3: 17-4998687-C-T
gnomAD v4: 17-4998687-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4998687C>T , CM000679.2:g.4998687C>T GRCh38
NC_000017.10:g.4901982C>T , CM000679.1:g.4901982C>T GRCh37
NC_000017.9:g.4842706C>T NCBI36
NG_034137.1:g.5740C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320785.10:c.-149+531C>T (KIF1C) MANE Select ENSP00000320821.5:n.-149+531C>T
ENST00000320785.9:c.-149+531C>T (KIF1C) ENSP00000320821.5:n.-149+531C>T
ENST00000574165.1:c.-182-326C>T (KIF1C) ENSP00000458697.1:n.-182-326C>T
NM_006612.5:c.-149+531C>T (KIF1C) NP_006603.2:n.-149+531C>T
XM_005256424.1:c.-182-326C>T (KIF1C) XP_005256481.1:n.-182-326C>T
XM_005256424.2:c.-182-326C>T (KIF1C) XP_005256481.1:n.-182-326C>T
XM_024450745.1:c.-38-4212G>A (INCA1) XP_024306513.1:n.-38-4212G>A
NM_006612.6:c.-149+531C>T (KIF1C) MANE Select NP_006603.2:n.-149+531C>T