Canonical Allele Identifier: CA397315057
Gene: KIF1C HGNC NCBI

Linked Data

gnomAD v4: 17-5022569-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022569G>A , CM000679.2:g.5022569G>A GRCh38
NC_000017.10:g.4925864G>A , CM000679.1:g.4925864G>A GRCh37
NC_000017.9:g.4866588G>A NCBI36
NG_034137.1:g.29622G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2488G>A MANE Select ENSP00000320821.5:p.Val830Met
ENST00000320785.9:c.2488G>A ENSP00000320821.5:p.Val830Met
NM_006612.5:c.2488G>A NP_006603.2:p.Val830Met
XM_005256424.1:c.2488G>A XP_005256481.1:p.Val830Met
XM_005256424.2:c.2488G>A XP_005256481.1:p.Val830Met
NM_006612.6:c.2488G>A MANE Select NP_006603.2:p.Val830Met