Canonical Allele Identifier: CA397345906

Linked Data

dbSNP Id: rs1363516013
gnomAD v2: 17-4905802-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5002507T>G , CM000679.2:g.5002507T>G GRCh38
NC_000017.10:g.4905802T>G , CM000679.1:g.4905802T>G GRCh37
NC_000017.9:g.4846526T>G NCBI36
NG_034137.1:g.9560T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.473T>G (KIF1C) MANE Select ENSP00000320821.5:p.Leu158Trp
ENST00000320785.9:c.473T>G (KIF1C) ENSP00000320821.5:p.Leu158Trp
NM_006612.5:c.473T>G (KIF1C) NP_006603.2:p.Leu158Trp
XM_005256424.1:c.473T>G (KIF1C) XP_005256481.1:p.Leu158Trp
XM_005256424.2:c.473T>G (KIF1C) XP_005256481.1:p.Leu158Trp
XM_024450745.1:c.-39+3575A>C (INCA1) XP_024306513.1:n.-39+3575A>C
NM_006612.6:c.473T>G (KIF1C) MANE Select NP_006603.2:p.Leu158Trp