Canonical Allele Identifier: CA237791382

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 1962669
• ClinVar RCV Id: RCV002710594
• dbSNP Id: rs200008143
• gnomAD v2: 12-57975676-G-C
• gnomAD v3: 12-57581893-G-C
• gnomAD v4: 12-57581893-G-C
• MyVariant Identifiers: chr12:g.57975676G>C (hg19) ; chr12:g.57581893G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581893G>C , CM000674.2:g.57581893G>C	GRCh38
NC_000012.11:g.57975676G>C , CM000674.1:g.57975676G>C	GRCh37
NC_000012.10:g.56261943G>C	NCBI36
NG_008155.1:g.36830G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2933G>C MANE Select	ENSP00000408979.2:p.Ser978Thr
ENST00000674619.1:c.2954G>C	ENSP00000502270.1:p.Ser985Thr
ENST00000675697.1:c.24G>C
ENST00000675737.1:n.337G>C
ENST00000675882.1:n.2456G>C
ENST00000675929.1:n.1491G>C
ENST00000676055.1:c.24G>C
ENST00000676457.1:c.2828G>C	ENSP00000501588.1:p.Ser943Thr
ENST00000286452.5:c.2666G>C	ENSP00000286452.5:p.Ser889Thr
ENST00000455537.6:c.2933G>C	ENSP00000408979.2:p.Ser978Thr
ENST00000552227.1:n.216G>C
NM_004984.2:c.2933G>C	NP_004975.2:p.Ser978Thr
NM_001354705.1:c.2666G>C	NP_001341634.1:p.Ser889Thr
NM_004984.3:c.2933G>C	NP_004975.2:p.Ser978Thr
XR_002957324.1:n.3166G>C
NM_004984.4:c.2933G>C MANE Select	NP_004975.2:p.Ser978Thr
NM_001354705.2:c.2666G>C	NP_001341634.1:p.Ser889Thr