Canonical Allele Identifier: CA497555161

Linked Data

dbSNP Id: rs1381922455
gnomAD v3: 17-5002508-G-A
gnomAD v4: 17-5002508-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5002508G>A , CM000679.2:g.5002508G>A GRCh38
NC_000017.10:g.4905803G>A , CM000679.1:g.4905803G>A GRCh37
NC_000017.9:g.4846527G>A NCBI36
NG_034137.1:g.9561G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.474G>A (KIF1C) MANE Select ENSP00000320821.5:p.Leu158=
ENST00000320785.9:c.474G>A (KIF1C) ENSP00000320821.5:p.Leu158=
NM_006612.5:c.474G>A (KIF1C) NP_006603.2:p.Leu158=
XM_005256424.1:c.474G>A (KIF1C) XP_005256481.1:p.Leu158=
XM_005256424.2:c.474G>A (KIF1C) XP_005256481.1:p.Leu158=
XM_024450745.1:c.-39+3574C>T (INCA1) XP_024306513.1:n.-39+3574C>T
NM_006612.6:c.474G>A (KIF1C) MANE Select NP_006603.2:p.Leu158=