Canonical Allele Identifier: CA287212571

Linked Data

dbSNP Id: rs372500741
gnomAD v2: 17-4905861-G-A
gnomAD v3: 17-5002566-G-A
gnomAD v4: 17-5002566-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5002566G>A , CM000679.2:g.5002566G>A GRCh38
NC_000017.10:g.4905861G>A , CM000679.1:g.4905861G>A GRCh37
NC_000017.9:g.4846585G>A NCBI36
NG_034137.1:g.9619G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.532G>A (KIF1C) MANE Select ENSP00000320821.5:p.Val178Met
ENST00000320785.9:c.532G>A (KIF1C) ENSP00000320821.5:p.Val178Met
NM_006612.5:c.532G>A (KIF1C) NP_006603.2:p.Val178Met
XM_005256424.1:c.532G>A (KIF1C) XP_005256481.1:p.Val178Met
XM_005256424.2:c.532G>A (KIF1C) XP_005256481.1:p.Val178Met
XM_024450745.1:c.-39+3516C>T (INCA1) XP_024306513.1:n.-39+3516C>T
NM_006612.6:c.532G>A (KIF1C) MANE Select NP_006603.2:p.Val178Met