Canonical Allele Identifier: CA658796216

Gene: KIF1A

Linked Data

• ClinVar Variation Id: 532862
• ClinVar RCV Id: RCV000639780 ; RCV001310787
• dbSNP Id: rs1440735433
• gnomAD v4: 2-240724042-G-A
• MyVariant Identifiers: chr2:g.241663459G>A (hg19) ; chr2:g.240724042G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240724042G>A , CM000664.2:g.240724042G>A	GRCh38
NC_000002.11:g.241663459G>A , CM000664.1:g.241663459G>A	GRCh37
NC_000002.10:g.241312132G>A	NCBI36
NG_029724.1:g.101166C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320389.12:c.3978-6C>T	ENSP00000322791.8:n.3978-6C>T
ENST00000404283.9:c.4281-6C>T	ENSP00000384231.5:n.4281-6C>T
ENST00000431776.6:c.1077-6C>T	ENSP00000414613.2:n.1077-6C>T
ENST00000492812.6:n.2840-6C>T
ENST00000498729.9:c.4257-6C>T MANE Select	ENSP00000438388.1:n.4257-6C>T
ENST00000647731.1:c.3981-6C>T	ENSP00000498099.1:n.3981-6C>T
ENST00000647885.1:c.4068-6C>T	ENSP00000497739.1:n.4068-6C>T
ENST00000648047.1:c.3216-6C>T	ENSP00000497935.1:n.3216-6C>T
ENST00000648129.1:c.4230-6C>T	ENSP00000497293.1:n.4230-6C>T
ENST00000648364.1:c.3981-6C>T	ENSP00000498196.1:n.3981-6C>T
ENST00000648680.1:c.4008-6C>T	ENSP00000497586.1:n.4008-6C>T
ENST00000649096.1:c.3954-6C>T	ENSP00000497030.1:n.3954-6C>T
ENST00000649190.1:n.3251-6C>T
ENST00000649306.1:c.4056-6C>T	ENSP00000497678.1:n.4056-6C>T
ENST00000650053.1:c.3954-6C>T	ENSP00000497824.1:n.3954-6C>T
ENST00000650130.1:c.4230-6C>T	ENSP00000498082.1:n.4230-6C>T
ENST00000650430.1:n.3329-6C>T
ENST00000320389.11:c.3954-6C>T	ENSP00000322791.7:n.3954-6C>T
ENST00000404283.7:c.4281-6C>T	ENSP00000384231.3:n.4281-6C>T
ENST00000431776.5:c.752-6C>T
ENST00000460788.5:n.808C>T
ENST00000492812.5:n.729-6C>T
ENST00000498729.6:c.4257-6C>T	ENSP00000438388.1:n.4257-6C>T
NM_001244008.1:c.4257-6C>T	NP_001230937.1:n.4257-6C>T
NM_004321.6:c.3954-6C>T	NP_004312.2:n.3954-6C>T
XM_005247022.1:c.4284-6C>T	XP_005247079.1:n.4284-6C>T
XM_005247023.1:c.4281-6C>T	XP_005247080.1:n.4281-6C>T
XM_005247024.1:c.4257-6C>T	XP_005247081.1:n.4257-6C>T
XM_005247026.1:c.3981-6C>T	XP_005247083.1:n.3981-6C>T
XM_005247027.1:c.3978-6C>T	XP_005247084.1:n.3978-6C>T
XM_005247028.1:c.3954-6C>T	XP_005247085.1:n.3954-6C>T
XM_006712605.1:c.4230-6C>T	XP_006712668.1:n.4230-6C>T
XM_011511364.1:c.4284-6C>T	XP_011509666.1:n.4284-6C>T
XM_011511365.1:c.4008-6C>T	XP_011509667.1:n.4008-6C>T
XM_011511366.1:c.3279-6C>T	XP_011509668.1:n.3279-6C>T
XM_011511367.1:c.3279-6C>T	XP_011509669.1:n.3279-6C>T
NM_001320705.1:c.3981-6C>T	NP_001307634.1:n.3981-6C>T
NM_001330289.1:c.4008-6C>T	NP_001317218.1:n.4008-6C>T
NM_001330290.1:c.4056-6C>T	NP_001317219.1:n.4056-6C>T
NM_004321.7:c.3954-6C>T	NP_004312.2:n.3954-6C>T
NM_001320705.2:c.3981-6C>T	NP_001307634.1:n.3981-6C>T
NM_001330289.2:c.4008-6C>T	NP_001317218.1:n.4008-6C>T
NM_001330290.2:c.4056-6C>T	NP_001317219.1:n.4056-6C>T
NM_001244008.2:c.4257-6C>T MANE Select	NP_001230937.1:n.4257-6C>T
NM_001379631.1:c.4332-6C>T	NP_001366560.1:n.4332-6C>T
NM_001379632.1:c.4233-6C>T	NP_001366561.1:n.4233-6C>T
NM_001379633.1:c.4230-6C>T	NP_001366562.1:n.4230-6C>T
NM_001379634.1:c.4083-6C>T	NP_001366563.1:n.4083-6C>T
NM_001379635.1:c.4080-6C>T	NP_001366564.1:n.4080-6C>T
NM_001379636.1:c.4068-6C>T	NP_001366565.1:n.4068-6C>T
NM_001379637.1:c.4029-6C>T	NP_001366566.1:n.4029-6C>T
NM_001379638.1:c.4005-6C>T	NP_001366567.1:n.4005-6C>T
NM_001379639.1:c.3978-6C>T	NP_001366568.1:n.3978-6C>T
NM_001379640.1:c.3951-6C>T	NP_001366569.1:n.3951-6C>T
NM_001379641.1:c.3954-6C>T	NP_001366570.1:n.3954-6C>T
NM_001379642.1:c.4257-6C>T	NP_001366571.1:n.4257-6C>T
NM_001379645.1:c.4230-6C>T	NP_001366574.1:n.4230-6C>T
NM_001379646.1:c.4080-6C>T	NP_001366575.1:n.4080-6C>T
NM_001379648.1:c.4056-6C>T	NP_001366577.1:n.4056-6C>T
NM_001379649.1:c.3981-6C>T	NP_001366578.1:n.3981-6C>T
NM_001379650.1:c.3954-6C>T	NP_001366579.1:n.3954-6C>T
NM_001379651.1:c.3954-6C>T	NP_001366580.1:n.3954-6C>T
NM_001379653.1:c.3954-6C>T	NP_001366582.1:n.3954-6C>T
NM_004321.8:c.3954-6C>T	NP_004312.2:n.3954-6C>T