Canonical Allele Identifier: CA237791517

Gene: KIF5A

Linked Data

• dbSNP Id: rs974410623
• gnomAD v2: 12-57975958-T-C
• gnomAD v3: 12-57582175-T-C
• gnomAD v4: 12-57582175-T-C
• MyVariant Identifiers: chr12:g.57975958T>C (hg19) ; chr12:g.57582175T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582175T>C , CM000674.2:g.57582175T>C	GRCh38
NC_000012.11:g.57975958T>C , CM000674.1:g.57975958T>C	GRCh37
NC_000012.10:g.56262225T>C	NCBI36
NG_008155.1:g.37112T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2992+223T>C MANE Select	ENSP00000408979.2:n.2992+223T>C
ENST00000674619.1:c.3013+223T>C	ENSP00000502270.1:n.3013+223T>C
ENST00000675697.1:c.83+223T>C
ENST00000675737.1:n.619T>C
ENST00000675882.1:n.2515+223T>C
ENST00000675929.1:n.1550+223T>C
ENST00000676055.1:c.83+223T>C
ENST00000676437.1:c.17+223T>C
ENST00000676457.1:c.2887+223T>C	ENSP00000501588.1:n.2887+223T>C
ENST00000286452.5:c.2725+223T>C	ENSP00000286452.5:n.2725+223T>C
ENST00000455537.6:c.2992+223T>C	ENSP00000408979.2:n.2992+223T>C
ENST00000552227.1:n.275+223T>C
NM_004984.2:c.2992+223T>C	NP_004975.2:n.2992+223T>C
NM_001354705.1:c.2725+223T>C	NP_001341634.1:n.2725+223T>C
NM_004984.3:c.2992+223T>C	NP_004975.2:n.2992+223T>C
XR_002957324.1:n.3225+223T>C
NM_004984.4:c.2992+223T>C MANE Select	NP_004975.2:n.2992+223T>C
NM_001354705.2:c.2725+223T>C	NP_001341634.1:n.2725+223T>C