Canonical Allele Identifier: CA624857610

Linked Data

dbSNP Id: rs1295509497
gnomAD v2: 17-4905665-C-T
gnomAD v3: 17-5002370-C-T
gnomAD v4: 17-5002370-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5002370C>T , CM000679.2:g.5002370C>T GRCh38
NC_000017.10:g.4905665C>T , CM000679.1:g.4905665C>T GRCh37
NC_000017.9:g.4846389C>T NCBI36
NG_034137.1:g.9423C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.430-94C>T (KIF1C) MANE Select ENSP00000320821.5:n.430-94C>T
ENST00000320785.9:c.430-94C>T (KIF1C) ENSP00000320821.5:n.430-94C>T
NM_006612.5:c.430-94C>T (KIF1C) NP_006603.2:n.430-94C>T
XM_005256424.1:c.430-94C>T (KIF1C) XP_005256481.1:n.430-94C>T
XM_005256424.2:c.430-94C>T (KIF1C) XP_005256481.1:n.430-94C>T
XM_024450745.1:c.-39+3712G>A (INCA1) XP_024306513.1:n.-39+3712G>A
NM_006612.6:c.430-94C>T (KIF1C) MANE Select NP_006603.2:n.430-94C>T