Canonical Allele Identifier: CA397312819

Gene: KIF1C

Linked Data

• gnomAD v4: 17-5022227-A-G
• MyVariant Identifiers: chr17:g.4925522A>G (hg19) ; chr17:g.5022227A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5022227A>G , CM000679.2:g.5022227A>G	GRCh38
NC_000017.10:g.4925522A>G , CM000679.1:g.4925522A>G	GRCh37
NC_000017.9:g.4866246A>G	NCBI36
NG_034137.1:g.29280A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320785.10:c.2146A>G MANE Select	ENSP00000320821.5:p.Ser716Gly
ENST00000320785.9:c.2146A>G	ENSP00000320821.5:p.Ser716Gly
ENST00000573815.1:n.688A>G
NM_006612.5:c.2146A>G	NP_006603.2:p.Ser716Gly
XM_005256424.1:c.2146A>G	XP_005256481.1:p.Ser716Gly
XM_005256424.2:c.2146A>G	XP_005256481.1:p.Ser716Gly
NM_006612.6:c.2146A>G MANE Select	NP_006603.2:p.Ser716Gly