Canonical Allele Identifier: CA497955035

Gene: HES7

Linked Data

• gnomAD v4: 17-8121709-G-A
• MyVariant Identifiers: chr17:g.8025027G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121709G>A , CM000679.2:g.8121709G>A	GRCh38
NC_000017.10:g.8025027G>A , CM000679.1:g.8025027G>A	GRCh37
NC_000017.9:g.7965752G>A	NCBI36
NG_015807.1:g.2208C>T
NG_015816.1:g.7384C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.555C>T MANE Select	ENSP00000446205.2:p.Cys185=
ENST00000317814.8:c.540C>T	ENSP00000314774.4:p.Cys180=
ENST00000541682.6:c.555C>T	ENSP00000446205.2:p.Cys185=
NM_001165967.1:c.555C>T	NP_001159439.1:p.Cys185=
NM_032580.3:c.540C>T	NP_115969.2:p.Cys180=
XM_011524038.1:c.660C>T	XP_011522340.1:p.Cys220=
XM_011524039.1:c.651C>T	XP_011522341.1:p.Cys217=
XM_011524040.1:c.651C>T	XP_011522342.1:p.Cys217=
XM_011524041.1:c.642C>T	XP_011522343.1:p.Cys214=
XM_011524042.1:c.513C>T	XP_011522344.1:p.Cys171=
XR_934203.1:n.69+1895G>A
XM_017025232.1:c.660C>T	XP_016880721.1:p.Cys220=
XM_024451007.1:c.660C>T	XP_024306775.1:p.Cys220=
NM_001165967.2:c.555C>T MANE Select	NP_001159439.1:p.Cys185=
NM_032580.4:c.540C>T	NP_115969.2:p.Cys180=