Canonical Allele Identifier: CA397987551

Gene: HES7

Linked Data

• gnomAD v4: 17-8121709-G-T
• MyVariant Identifiers: chr17:g.8025027G>T (hg19) ; chr17:g.8121709G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.555C>A MANE Select	ENSP00000446205.2:p.Cys185Ter
ENST00000317814.8:c.540C>A	ENSP00000314774.4:p.Cys180Ter
ENST00000541682.6:c.555C>A	ENSP00000446205.2:p.Cys185Ter
NM_001165967.1:c.555C>A	NP_001159439.1:p.Cys185Ter
NM_032580.3:c.540C>A	NP_115969.2:p.Cys180Ter
XM_011524038.1:c.660C>A	XP_011522340.1:p.Cys220Ter
XM_011524039.1:c.651C>A	XP_011522341.1:p.Cys217Ter
XM_011524040.1:c.651C>A	XP_011522342.1:p.Cys217Ter
XM_011524041.1:c.642C>A	XP_011522343.1:p.Cys214Ter
XM_011524042.1:c.513C>A	XP_011522344.1:p.Cys171Ter
XR_934203.1:n.69+1895G>T
XM_017025232.1:c.660C>A	XP_016880721.1:p.Cys220Ter
XM_024451007.1:c.660C>A	XP_024306775.1:p.Cys220Ter
NM_001165967.2:c.555C>A MANE Select	NP_001159439.1:p.Cys185Ter
NM_032580.4:c.540C>A	NP_115969.2:p.Cys180Ter