Canonical Allele Identifier: CA16607740

Gene: KIF1C

Linked Data

• ClinVar Variation Id: 388469
• ClinVar RCV Id: RCV000436674 ; RCV002526347
• dbSNP Id: rs1057523116
• gnomAD v2: 17-4918137-T-C
• gnomAD v3: 17-5014842-T-C
• gnomAD v4: 17-5014842-T-C
• MyVariant Identifiers: chr17:g.4918137T>C (hg19) ; chr17:g.5014842T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5014842T>C , CM000679.2:g.5014842T>C	GRCh38
NC_000017.10:g.4918137T>C , CM000679.1:g.4918137T>C	GRCh37
NC_000017.9:g.4858861T>C	NCBI36
NG_034137.1:g.21895T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320785.10:c.1666+5T>C MANE Select	ENSP00000320821.5:n.1666+5T>C
ENST00000320785.9:c.1666+5T>C	ENSP00000320821.5:n.1666+5T>C
ENST00000573815.1:n.208+5T>C
NM_006612.5:c.1666+5T>C	NP_006603.2:n.1666+5T>C
XM_005256424.1:c.1666+5T>C	XP_005256481.1:n.1666+5T>C
XM_005256424.2:c.1666+5T>C	XP_005256481.1:n.1666+5T>C
NM_006612.6:c.1666+5T>C MANE Select	NP_006603.2:n.1666+5T>C