Canonical Allele Identifier: CA397313049
Gene: KIF1C HGNC NCBI

Linked Data

dbSNP Id: rs1397753368
gnomAD v2: 17-4925577-T-A
gnomAD v4: 17-5022282-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022282T>A , CM000679.2:g.5022282T>A GRCh38
NC_000017.10:g.4925577T>A , CM000679.1:g.4925577T>A GRCh37
NC_000017.9:g.4866301T>A NCBI36
NG_034137.1:g.29335T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320785.10:c.2201T>A MANE Select ENSP00000320821.5:p.Leu734Gln
ENST00000320785.9:c.2201T>A ENSP00000320821.5:p.Leu734Gln
NM_006612.5:c.2201T>A NP_006603.2:p.Leu734Gln
XM_005256424.1:c.2201T>A XP_005256481.1:p.Leu734Gln
XM_005256424.2:c.2201T>A XP_005256481.1:p.Leu734Gln
NM_006612.6:c.2201T>A MANE Select NP_006603.2:p.Leu734Gln