Canonical Allele Identifier: CA476144153

Gene: HIKESHI

Linked Data

• gnomAD v4: 11-86306421-C-G
• MyVariant Identifiers: chr11:g.86017463C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306421C>G , CM000673.2:g.86306421C>G	GRCh38
NC_000011.9:g.86017463C>G , CM000673.1:g.86017463C>G	GRCh37
NC_000011.8:g.85695111C>G	NCBI36
NG_046865.1:g.9211C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278483.8:c.207C>G MANE Select	ENSP00000278483.3:p.Leu69=
ENST00000278483.7:c.207C>G	ENSP00000278483.3:p.Leu69=
ENST00000528004.5:c.207C>G	ENSP00000433815.1:p.Leu69=
ENST00000530208.1:n.282C>G
ENST00000531485.5:n.236+3943C>G
ENST00000532270.5:n.546C>G
ENST00000533986.5:c.207C>G	ENSP00000432699.1:p.Leu69=
ENST00000618164.1:c.9C>G	ENSP00000482151.1:p.Leu3=
NM_016401.3:c.207C>G	NP_057485.2:p.Leu69=
NR_024596.1:n.282C>G
NR_024597.1:n.268+3943C>G
NR_024598.1:n.268+3943C>G
XM_011545097.1:c.90C>G	XP_011543399.1:p.Leu30=
XR_949963.1:n.430C>G
NM_001322404.1:c.207C>G	NP_001309333.1:p.Leu69=
NM_001322407.1:c.90C>G	NP_001309336.1:p.Leu30=
NM_001322409.1:c.90C>G	NP_001309338.1:p.Leu30=
NR_136324.1:n.429C>G
XM_017017914.2:c.207C>G	XP_016873403.1:p.Leu69=
XM_017017915.1:c.90C>G	XP_016873404.1:p.Leu30=
XR_001747904.2:n.416C>G
XR_949963.3:n.416C>G
NM_016401.4:c.207C>G MANE Select	NP_057485.2:p.Leu69=
NM_001322404.2:c.207C>G	NP_001309333.1:p.Leu69=
NM_001322407.2:c.90C>G	NP_001309336.1:p.Leu30=
NM_001322409.2:c.90C>G	NP_001309338.1:p.Leu30=
NR_024597.2:n.239+3943C>G
NR_024598.2:n.239+3943C>G
NR_136324.2:n.416C>G