Canonical Allele Identifier: CA6652697

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 382750
• ClinVar RCV Id: RCV000439413 ; RCV000513769 ; RCV001517822
• dbSNP Id: rs181688415
• ExAC: 12:57963020 G / T
• gnomAD v2: 12-57963020-G-T
• gnomAD v3: 12-57569237-G-T
• gnomAD v4: 12-57569237-G-T
• MyVariant Identifiers: chr12:g.57963020G>T (hg19) ; chr12:g.57569237G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569237G>T , CM000674.2:g.57569237G>T	GRCh38
NC_000012.11:g.57963020G>T , CM000674.1:g.57963020G>T	GRCh37
NC_000012.10:g.56249287G>T	NCBI36
NG_008155.1:g.24174G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.820-19G>T MANE Select	ENSP00000408979.2:n.820-19G>T
ENST00000674619.1:c.820-19G>T	ENSP00000502270.1:n.820-19G>T
ENST00000676457.1:c.715-19G>T	ENSP00000501588.1:n.715-19G>T
ENST00000286452.5:c.553-19G>T	ENSP00000286452.5:n.553-19G>T
ENST00000455537.6:c.820-19G>T	ENSP00000408979.2:n.820-19G>T
NM_004984.2:c.820-19G>T	NP_004975.2:n.820-19G>T
NM_001354705.1:c.553-19G>T	NP_001341634.1:n.553-19G>T
NM_004984.3:c.820-19G>T	NP_004975.2:n.820-19G>T
XR_002957324.1:n.1053-19G>T
NM_004984.4:c.820-19G>T MANE Select	NP_004975.2:n.820-19G>T
NM_001354705.2:c.553-19G>T	NP_001341634.1:n.553-19G>T