Canonical Allele Identifier: CA8368669

Gene: HES7

Linked Data

• dbSNP Id: rs749089405
• ExAC: 17:8025296 A / T
• gnomAD v2: 17-8025296-A-T
• gnomAD v3: 17-8121978-A-T
• gnomAD v4: 17-8121978-A-T
• MyVariant Identifiers: chr17:g.8025296A>T (hg19) ; chr17:g.8121978A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121978A>T , CM000679.2:g.8121978A>T	GRCh38
NC_000017.10:g.8025296A>T , CM000679.1:g.8025296A>T	GRCh37
NC_000017.9:g.7966021A>T	NCBI36
NG_015807.1:g.1939T>A
NG_015816.1:g.7115T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.286T>A MANE Select	ENSP00000446205.2:p.Cys96Ser
ENST00000317814.8:c.271T>A	ENSP00000314774.4:p.Cys91Ser
ENST00000541682.6:c.286T>A	ENSP00000446205.2:p.Cys96Ser
ENST00000577735.1:c.262T>A	ENSP00000462491.1:p.Cys88Ser
NM_001165967.1:c.286T>A	NP_001159439.1:p.Cys96Ser
NM_032580.3:c.271T>A	NP_115969.2:p.Cys91Ser
XM_011524038.1:c.391T>A	XP_011522340.1:p.Cys131Ser
XM_011524039.1:c.382T>A	XP_011522341.1:p.Cys128Ser
XM_011524040.1:c.382T>A	XP_011522342.1:p.Cys128Ser
XM_011524041.1:c.373T>A	XP_011522343.1:p.Cys125Ser
XM_011524042.1:c.244T>A	XP_011522344.1:p.Cys82Ser
XR_934203.1:n.69+2164A>T
XM_017025232.1:c.391T>A	XP_016880721.1:p.Cys131Ser
XM_024451007.1:c.391T>A	XP_024306775.1:p.Cys131Ser
NM_001165967.2:c.286T>A MANE Select	NP_001159439.1:p.Cys96Ser
NM_032580.4:c.271T>A	NP_115969.2:p.Cys91Ser