Canonical Allele Identifier: CA6216690

Gene: HIKESHI

Linked Data

• dbSNP Id: rs765115757
• ExAC: 11:86017496 C / A
• gnomAD v2: 11-86017496-C-A
• gnomAD v3: 11-86306454-C-A
• gnomAD v4: 11-86306454-C-A
• MyVariant Identifiers: chr11:g.86017496C>A (hg19) ; chr11:g.86306454C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306454C>A , CM000673.2:g.86306454C>A	GRCh38
NC_000011.9:g.86017496C>A , CM000673.1:g.86017496C>A	GRCh37
NC_000011.8:g.85695144C>A	NCBI36
NG_046865.1:g.9244C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000278483.8:c.240C>A MANE Select	ENSP00000278483.3:p.Ala80=
ENST00000278483.7:c.240C>A	ENSP00000278483.3:p.Ala80=
ENST00000528004.5:c.240C>A	ENSP00000433815.1:p.Ala80=
ENST00000530208.1:n.315C>A
ENST00000531485.5:n.236+3976C>A
ENST00000532270.5:n.579C>A
ENST00000533986.5:c.240C>A	ENSP00000432699.1:p.Ala80=
ENST00000618164.1:c.42C>A	ENSP00000482151.1:p.Ala14=
NM_016401.3:c.240C>A	NP_057485.2:p.Ala80=
NR_024596.1:n.315C>A
NR_024597.1:n.268+3976C>A
NR_024598.1:n.268+3976C>A
XM_011545097.1:c.123C>A	XP_011543399.1:p.Ala41=
XR_949963.1:n.463C>A
NM_001322404.1:c.240C>A	NP_001309333.1:p.Ala80=
NM_001322407.1:c.123C>A	NP_001309336.1:p.Ala41=
NM_001322409.1:c.123C>A	NP_001309338.1:p.Ala41=
NR_136324.1:n.462C>A
XM_017017914.2:c.240C>A	XP_016873403.1:p.Ala80=
XM_017017915.1:c.123C>A	XP_016873404.1:p.Ala41=
XR_001747904.2:n.449C>A
XR_949963.3:n.449C>A
NM_016401.4:c.240C>A MANE Select	NP_057485.2:p.Ala80=
NM_001322404.2:c.240C>A	NP_001309333.1:p.Ala80=
NM_001322407.2:c.123C>A	NP_001309336.1:p.Ala41=
NM_001322409.2:c.123C>A	NP_001309338.1:p.Ala41=
NR_024597.2:n.239+3976C>A
NR_024598.2:n.239+3976C>A
NR_136324.2:n.449C>A