Canonical Allele Identifier: CA8368656

Gene: HES7

Linked Data

• dbSNP Id: rs777228993
• ExAC: 17:8025224 G / T
• gnomAD v2: 17-8025224-G-T
• gnomAD v4: 17-8121906-G-T
• MyVariant Identifiers: chr17:g.8025224G>T (hg19) ; chr17:g.8121906G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121906G>T , CM000679.2:g.8121906G>T	GRCh38
NC_000017.10:g.8025224G>T , CM000679.1:g.8025224G>T	GRCh37
NC_000017.9:g.7965949G>T	NCBI36
NG_015807.1:g.2011C>A
NG_015816.1:g.7187C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.358C>A MANE Select	ENSP00000446205.2:p.Arg120Ser
ENST00000317814.8:c.343C>A	ENSP00000314774.4:p.Arg115Ser
ENST00000541682.6:c.358C>A	ENSP00000446205.2:p.Arg120Ser
ENST00000577735.1:c.334C>A	ENSP00000462491.1:p.Arg112Ser
NM_001165967.1:c.358C>A	NP_001159439.1:p.Arg120Ser
NM_032580.3:c.343C>A	NP_115969.2:p.Arg115Ser
XM_011524038.1:c.463C>A	XP_011522340.1:p.Arg155Ser
XM_011524039.1:c.454C>A	XP_011522341.1:p.Arg152Ser
XM_011524040.1:c.454C>A	XP_011522342.1:p.Arg152Ser
XM_011524041.1:c.445C>A	XP_011522343.1:p.Arg149Ser
XM_011524042.1:c.316C>A	XP_011522344.1:p.Arg106Ser
XR_934203.1:n.69+2092G>T
XM_017025232.1:c.463C>A	XP_016880721.1:p.Arg155Ser
XM_024451007.1:c.463C>A	XP_024306775.1:p.Arg155Ser
NM_001165967.2:c.358C>A MANE Select	NP_001159439.1:p.Arg120Ser
NM_032580.4:c.343C>A	NP_115969.2:p.Arg115Ser