Canonical Allele Identifier: CA8318947

Gene: KIF1C

Linked Data

• ClinVar Variation Id: 450099
• ClinVar RCV Id: RCV000521926 ; RCV001321550 ; RCV001848914
• dbSNP Id: rs142046798
• ExAC: 17:4910568 A / G
• gnomAD v2: 17-4910568-A-G
• gnomAD v3: 17-5007273-A-G
• gnomAD v4: 17-5007273-A-G
• MyVariant Identifiers: chr17:g.4910568A>G (hg19) ; chr17:g.5007273A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5007273A>G , CM000679.2:g.5007273A>G	GRCh38
NC_000017.10:g.4910568A>G , CM000679.1:g.4910568A>G	GRCh37
NC_000017.9:g.4851292A>G	NCBI36
NG_034137.1:g.14326A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320785.10:c.1346A>G MANE Select	ENSP00000320821.5:p.Lys449Arg
ENST00000320785.9:c.1346A>G	ENSP00000320821.5:p.Lys449Arg
NM_006612.5:c.1346A>G	NP_006603.2:p.Lys449Arg
XM_005256424.1:c.1346A>G	XP_005256481.1:p.Lys449Arg
XM_005256424.2:c.1346A>G	XP_005256481.1:p.Lys449Arg
NM_006612.6:c.1346A>G MANE Select	NP_006603.2:p.Lys449Arg