Canonical Allele Identifier: CA397314102
Gene: KIF1C HGNC NCBI

Linked Data

gnomAD v4: 17-5022449-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022449G>T , CM000679.2:g.5022449G>T GRCh38
NC_000017.10:g.4925744G>T , CM000679.1:g.4925744G>T GRCh37
NC_000017.9:g.4866468G>T NCBI36
NG_034137.1:g.29502G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2368G>T MANE Select ENSP00000320821.5:p.Asp790Tyr
ENST00000320785.9:c.2368G>T ENSP00000320821.5:p.Asp790Tyr
NM_006612.5:c.2368G>T NP_006603.2:p.Asp790Tyr
XM_005256424.1:c.2368G>T XP_005256481.1:p.Asp790Tyr
XM_005256424.2:c.2368G>T XP_005256481.1:p.Asp790Tyr
NM_006612.6:c.2368G>T MANE Select NP_006603.2:p.Asp790Tyr