Canonical Allele Identifier: CA6653225

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 309948
• ClinVar RCV Id: RCV000595607 ; RCV000625001 ; RCV000860656 ; RCV001699440 ; RCV001848093 ; RCV004021552
• dbSNP Id: rs150672943
• ExAC: 12:57975281 A / G
• gnomAD v2: 12-57975281-A-G
• gnomAD v3: 12-57581498-A-G
• gnomAD v4: 12-57581498-A-G
• MyVariant Identifiers: chr12:g.57975281A>G (hg19) ; chr12:g.57581498A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581498A>G , CM000674.2:g.57581498A>G	GRCh38
NC_000012.11:g.57975281A>G , CM000674.1:g.57975281A>G	GRCh37
NC_000012.10:g.56261548A>G	NCBI36
NG_008155.1:g.36435A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2839A>G MANE Select	ENSP00000408979.2:p.Thr947Ala
ENST00000674619.1:c.2860A>G	ENSP00000502270.1:p.Thr954Ala
ENST00000674776.1:c.347A>G	ENSP00000502434.1:n.347A>G
ENST00000675634.1:c.334A>G	ENSP00000502231.1:p.Thr112Ala
ENST00000675737.1:n.243A>G
ENST00000675882.1:n.2061A>G
ENST00000675929.1:n.1397A>G
ENST00000676457.1:c.2734A>G	ENSP00000501588.1:p.Thr912Ala
ENST00000286452.5:c.2572A>G	ENSP00000286452.5:p.Thr858Ala
ENST00000455537.6:c.2839A>G	ENSP00000408979.2:p.Thr947Ala
NM_004984.2:c.2839A>G	NP_004975.2:p.Thr947Ala
NM_001354705.1:c.2572A>G	NP_001341634.1:p.Thr858Ala
NM_004984.3:c.2839A>G	NP_004975.2:p.Thr947Ala
XR_002957324.1:n.3072A>G
NM_004984.4:c.2839A>G MANE Select	NP_004975.2:p.Thr947Ala
NM_001354705.2:c.2572A>G	NP_001341634.1:p.Thr858Ala