Canonical Allele Identifier: CA382017743

Gene: HIKESHI

Linked Data

• ClinVar Variation Id: 2048484
• ClinVar RCV Id: RCV002909221
• gnomAD v4: 11-86306450-G-T
• MyVariant Identifiers: chr11:g.86017492G>T (hg19) ; chr11:g.86306450G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306450G>T , CM000673.2:g.86306450G>T	GRCh38
NC_000011.9:g.86017492G>T , CM000673.1:g.86017492G>T	GRCh37
NC_000011.8:g.85695140G>T	NCBI36
NG_046865.1:g.9240G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000278483.8:c.236G>T MANE Select	ENSP00000278483.3:p.Ser79Ile
ENST00000278483.7:c.236G>T	ENSP00000278483.3:p.Ser79Ile
ENST00000528004.5:c.236G>T	ENSP00000433815.1:p.Ser79Ile
ENST00000530208.1:n.311G>T
ENST00000531485.5:n.236+3972G>T
ENST00000532270.5:n.575G>T
ENST00000533986.5:c.236G>T	ENSP00000432699.1:p.Ser79Ile
ENST00000618164.1:c.38G>T	ENSP00000482151.1:p.Ser13Ile
NM_016401.3:c.236G>T	NP_057485.2:p.Ser79Ile
NR_024596.1:n.311G>T
NR_024597.1:n.268+3972G>T
NR_024598.1:n.268+3972G>T
XM_011545097.1:c.119G>T	XP_011543399.1:p.Ser40Ile
XR_949963.1:n.459G>T
NM_001322404.1:c.236G>T	NP_001309333.1:p.Ser79Ile
NM_001322407.1:c.119G>T	NP_001309336.1:p.Ser40Ile
NM_001322409.1:c.119G>T	NP_001309338.1:p.Ser40Ile
NR_136324.1:n.458G>T
XM_017017914.2:c.236G>T	XP_016873403.1:p.Ser79Ile
XM_017017915.1:c.119G>T	XP_016873404.1:p.Ser40Ile
XR_001747904.2:n.445G>T
XR_949963.3:n.445G>T
NM_016401.4:c.236G>T MANE Select	NP_057485.2:p.Ser79Ile
NM_001322404.2:c.236G>T	NP_001309333.1:p.Ser79Ile
NM_001322407.2:c.119G>T	NP_001309336.1:p.Ser40Ile
NM_001322409.2:c.119G>T	NP_001309338.1:p.Ser40Ile
NR_024597.2:n.239+3972G>T
NR_024598.2:n.239+3972G>T
NR_136324.2:n.445G>T