Canonical Allele Identifier: CA476144185

Gene: HIKESHI

Linked Data

• gnomAD v4: 11-86306466-T-C
• MyVariant Identifiers: chr11:g.86017508T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306466T>C , CM000673.2:g.86306466T>C	GRCh38
NC_000011.9:g.86017508T>C , CM000673.1:g.86017508T>C	GRCh37
NC_000011.8:g.85695156T>C	NCBI36
NG_046865.1:g.9256T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278483.8:c.252T>C MANE Select	ENSP00000278483.3:p.Ile84=
ENST00000278483.7:c.252T>C	ENSP00000278483.3:p.Ile84=
ENST00000528004.5:c.252T>C	ENSP00000433815.1:p.Ile84=
ENST00000530208.1:n.327T>C
ENST00000531485.5:n.236+3988T>C
ENST00000532270.5:n.591T>C
ENST00000533986.5:c.252T>C	ENSP00000432699.1:p.Ile84=
ENST00000618164.1:c.54T>C	ENSP00000482151.1:p.Ile18=
NM_016401.3:c.252T>C	NP_057485.2:p.Ile84=
NR_024596.1:n.327T>C
NR_024597.1:n.268+3988T>C
NR_024598.1:n.268+3988T>C
XM_011545097.1:c.135T>C	XP_011543399.1:p.Ile45=
XR_949963.1:n.475T>C
NM_001322404.1:c.252T>C	NP_001309333.1:p.Ile84=
NM_001322407.1:c.135T>C	NP_001309336.1:p.Ile45=
NM_001322409.1:c.135T>C	NP_001309338.1:p.Ile45=
NR_136324.1:n.474T>C
XM_017017914.2:c.252T>C	XP_016873403.1:p.Ile84=
XM_017017915.1:c.135T>C	XP_016873404.1:p.Ile45=
XR_001747904.2:n.461T>C
XR_949963.3:n.461T>C
NM_016401.4:c.252T>C MANE Select	NP_057485.2:p.Ile84=
NM_001322404.2:c.252T>C	NP_001309333.1:p.Ile84=
NM_001322407.2:c.135T>C	NP_001309336.1:p.Ile45=
NM_001322409.2:c.135T>C	NP_001309338.1:p.Ile45=
NR_024597.2:n.239+3988T>C
NR_024598.2:n.239+3988T>C
NR_136324.2:n.461T>C