Canonical Allele Identifier: CA397988726

Gene: HES7

Linked Data

• dbSNP Id: rs1420352839
• gnomAD v2: 17-8025278-G-A
• gnomAD v4: 17-8121960-G-A
• MyVariant Identifiers: chr17:g.8025278G>A (hg19) ; chr17:g.8121960G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121960G>A , CM000679.2:g.8121960G>A	GRCh38
NC_000017.10:g.8025278G>A , CM000679.1:g.8025278G>A	GRCh37
NC_000017.9:g.7966003G>A	NCBI36
NG_015807.1:g.1957C>T
NG_015816.1:g.7133C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.304C>T MANE Select	ENSP00000446205.2:p.Arg102Cys
ENST00000317814.8:c.289C>T	ENSP00000314774.4:p.Arg97Cys
ENST00000541682.6:c.304C>T	ENSP00000446205.2:p.Arg102Cys
ENST00000577735.1:c.280C>T	ENSP00000462491.1:p.Arg94Cys
NM_001165967.1:c.304C>T	NP_001159439.1:p.Arg102Cys
NM_032580.3:c.289C>T	NP_115969.2:p.Arg97Cys
XM_011524038.1:c.409C>T	XP_011522340.1:p.Arg137Cys
XM_011524039.1:c.400C>T	XP_011522341.1:p.Arg134Cys
XM_011524040.1:c.400C>T	XP_011522342.1:p.Arg134Cys
XM_011524041.1:c.391C>T	XP_011522343.1:p.Arg131Cys
XM_011524042.1:c.262C>T	XP_011522344.1:p.Arg88Cys
XR_934203.1:n.69+2146G>A
XM_017025232.1:c.409C>T	XP_016880721.1:p.Arg137Cys
XM_024451007.1:c.409C>T	XP_024306775.1:p.Arg137Cys
NM_001165967.2:c.304C>T MANE Select	NP_001159439.1:p.Arg102Cys
NM_032580.4:c.289C>T	NP_115969.2:p.Arg97Cys