Canonical Allele Identifier: CA2207781

Gene: KIF1A

Linked Data

• ClinVar Variation Id: 234725
• ClinVar RCV Id: RCV000213625 ; RCV000718021 ; RCV000540329 ; RCV000764395 ; RCV001847946 ; RCV002247667
• dbSNP Id: rs35698242
• ExAC: 2:241683449 A / G
• gnomAD v2: 2-241683449-A-G
• gnomAD v3: 2-240744032-A-G
• gnomAD v4: 2-240744032-A-G
• COSMIC: COSM4092904 ; COSM4092905
• MyVariant Identifiers: chr2:g.241683449A>G (hg19) ; chr2:g.240744032A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240744032A>G , CM000664.2:g.240744032A>G	GRCh38
NC_000002.11:g.241683449A>G , CM000664.1:g.241683449A>G	GRCh37
NC_000002.10:g.241332122A>G	NCBI36
NG_029724.1:g.81176T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320389.12:c.3191T>C	ENSP00000322791.8:p.Ile1064Thr
ENST00000404283.9:c.3494T>C	ENSP00000384231.5:p.Ile1165Thr
ENST00000431776.6:c.263T>C	ENSP00000414613.2:p.Ile88Thr
ENST00000492812.6:n.656T>C
ENST00000498729.9:c.3494T>C MANE Select	ENSP00000438388.1:p.Ile1165Thr
ENST00000647731.1:c.3191T>C	ENSP00000498099.1:p.Ile1064Thr
ENST00000647885.1:c.3191T>C	ENSP00000497739.1:p.Ile1064Thr
ENST00000648047.1:c.2429T>C	ENSP00000497935.1:p.Ile810Thr
ENST00000648129.1:c.3467T>C	ENSP00000497293.1:p.Ile1156Thr
ENST00000648364.1:c.3218T>C	ENSP00000498196.1:p.Ile1073Thr
ENST00000648680.1:c.3218T>C	ENSP00000497586.1:p.Ile1073Thr
ENST00000649064.1:n.3349T>C
ENST00000649096.1:c.3191T>C	ENSP00000497030.1:p.Ile1064Thr
ENST00000649190.1:n.2488T>C
ENST00000649306.1:c.3293T>C	ENSP00000497678.1:p.Ile1098Thr
ENST00000650053.1:c.3191T>C	ENSP00000497824.1:p.Ile1064Thr
ENST00000650130.1:c.3467T>C	ENSP00000498082.1:p.Ile1156Thr
ENST00000650430.1:n.2566T>C
ENST00000675126.1:c.198T>C
ENST00000320389.11:c.3191T>C	ENSP00000322791.7:p.Ile1064Thr
ENST00000404283.7:c.3494T>C	ENSP00000384231.3:p.Ile1165Thr
ENST00000498729.6:c.3494T>C	ENSP00000438388.1:p.Ile1165Thr
NM_001244008.1:c.3494T>C	NP_001230937.1:p.Ile1165Thr
NM_004321.6:c.3191T>C	NP_004312.2:p.Ile1064Thr
XM_005247022.1:c.3494T>C	XP_005247079.1:p.Ile1165Thr
XM_005247023.1:c.3494T>C	XP_005247080.1:p.Ile1165Thr
XM_005247024.1:c.3467T>C	XP_005247081.1:p.Ile1156Thr
XM_005247026.1:c.3218T>C	XP_005247083.1:p.Ile1073Thr
XM_005247027.1:c.3191T>C	XP_005247084.1:p.Ile1064Thr
XM_005247028.1:c.3191T>C	XP_005247085.1:p.Ile1064Thr
XM_006712605.1:c.3467T>C	XP_006712668.1:p.Ile1156Thr
XM_011511364.1:c.3494T>C	XP_011509666.1:p.Ile1165Thr
XM_011511365.1:c.3218T>C	XP_011509667.1:p.Ile1073Thr
XM_011511366.1:c.2489T>C	XP_011509668.1:p.Ile830Thr
XM_011511367.1:c.2489T>C	XP_011509669.1:p.Ile830Thr
NM_001320705.1:c.3218T>C	NP_001307634.1:p.Ile1073Thr
NM_001330289.1:c.3218T>C	NP_001317218.1:p.Ile1073Thr
NM_001330290.1:c.3293T>C	NP_001317219.1:p.Ile1098Thr
NM_004321.7:c.3191T>C	NP_004312.2:p.Ile1064Thr
NM_001320705.2:c.3218T>C	NP_001307634.1:p.Ile1073Thr
NM_001330289.2:c.3218T>C	NP_001317218.1:p.Ile1073Thr
NM_001330290.2:c.3293T>C	NP_001317219.1:p.Ile1098Thr
NM_001244008.2:c.3494T>C MANE Select	NP_001230937.1:p.Ile1165Thr
NM_001379631.1:c.3569T>C	NP_001366560.1:p.Ile1190Thr
NM_001379632.1:c.3443T>C	NP_001366561.1:p.Ile1148Thr
NM_001379633.1:c.3467T>C	NP_001366562.1:p.Ile1156Thr
NM_001379634.1:c.3293T>C	NP_001366563.1:p.Ile1098Thr
NM_001379635.1:c.3293T>C	NP_001366564.1:p.Ile1098Thr
NM_001379636.1:c.3191T>C	NP_001366565.1:p.Ile1064Thr
NM_001379637.1:c.3266T>C	NP_001366566.1:p.Ile1089Thr
NM_001379638.1:c.3218T>C	NP_001366567.1:p.Ile1073Thr
NM_001379639.1:c.3191T>C	NP_001366568.1:p.Ile1064Thr
NM_001379640.1:c.3188T>C	NP_001366569.1:p.Ile1063Thr
NM_001379641.1:c.3191T>C	NP_001366570.1:p.Ile1064Thr
NM_001379642.1:c.3467T>C	NP_001366571.1:p.Ile1156Thr
NM_001379645.1:c.3467T>C	NP_001366574.1:p.Ile1156Thr
NM_001379646.1:c.3293T>C	NP_001366575.1:p.Ile1098Thr
NM_001379648.1:c.3266T>C	NP_001366577.1:p.Ile1089Thr
NM_001379649.1:c.3191T>C	NP_001366578.1:p.Ile1064Thr
NM_001379650.1:c.3191T>C	NP_001366579.1:p.Ile1064Thr
NM_001379651.1:c.3191T>C	NP_001366580.1:p.Ile1064Thr
NM_001379653.1:c.3191T>C	NP_001366582.1:p.Ile1064Thr
NM_004321.8:c.3191T>C	NP_004312.2:p.Ile1064Thr