Canonical Allele Identifier: CA8318875

Gene: KIF1C INCA1

Linked Data

• ClinVar Variation Id: 468849
• ClinVar RCV Id: RCV000553957 ; RCV002292564 ; RCV001848958
• dbSNP Id: rs79290524
• ExAC: 17:4908266 C / G
• gnomAD v2: 17-4908266-C-G
• gnomAD v3: 17-5004971-C-G
• gnomAD v4: 17-5004971-C-G
• MyVariant Identifiers: chr17:g.4908266C>G (hg19) ; chr17:g.5004971C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5004971C>G , CM000679.2:g.5004971C>G	GRCh38
NC_000017.10:g.4908266C>G , CM000679.1:g.4908266C>G	GRCh37
NC_000017.9:g.4848990C>G	NCBI36
NG_034137.1:g.12024C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320785.10:c.1136C>G (KIF1C) MANE Select	ENSP00000320821.5:p.Ala379Gly
ENST00000320785.9:c.1136C>G (KIF1C)	ENSP00000320821.5:p.Ala379Gly
NM_006612.5:c.1136C>G (KIF1C)	NP_006603.2:p.Ala379Gly
XM_005256424.1:c.1136C>G (KIF1C)	XP_005256481.1:p.Ala379Gly
XM_005256424.2:c.1136C>G (KIF1C)	XP_005256481.1:p.Ala379Gly
XM_024450745.1:c.-39+1111G>C (INCA1)	XP_024306513.1:n.-39+1111G>C
NM_006612.6:c.1136C>G (KIF1C) MANE Select	NP_006603.2:p.Ala379Gly