Canonical Allele Identifier: CA397987014

Gene: HES7

Linked Data

• dbSNP Id: rs1981325810
• gnomAD v4: 17-8121614-G-T
• MyVariant Identifiers: chr17:g.8024932G>T (hg19) ; chr17:g.8121614G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121614G>T , CM000679.2:g.8121614G>T	GRCh38
NC_000017.10:g.8024932G>T , CM000679.1:g.8024932G>T	GRCh37
NC_000017.9:g.7965657G>T	NCBI36
NG_015807.1:g.2303C>A
NG_015816.1:g.7479C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.650C>A MANE Select	ENSP00000446205.2:p.Ala217Asp
ENST00000317814.8:c.635C>A	ENSP00000314774.4:p.Ala212Asp
ENST00000541682.6:c.650C>A	ENSP00000446205.2:p.Ala217Asp
NM_001165967.1:c.650C>A	NP_001159439.1:p.Ala217Asp
NM_032580.3:c.635C>A	NP_115969.2:p.Ala212Asp
XM_011524038.1:c.755C>A	XP_011522340.1:p.Ala252Asp
XM_011524039.1:c.746C>A	XP_011522341.1:p.Ala249Asp
XM_011524040.1:c.746C>A	XP_011522342.1:p.Ala249Asp
XM_011524041.1:c.737C>A	XP_011522343.1:p.Ala246Asp
XM_011524042.1:c.608C>A	XP_011522344.1:p.Ala203Asp
XR_934203.1:n.69+1800G>T
XM_017025232.1:c.755C>A	XP_016880721.1:p.Ala252Asp
XM_024451007.1:c.755C>A	XP_024306775.1:p.Ala252Asp
NM_001165967.2:c.650C>A MANE Select	NP_001159439.1:p.Ala217Asp
NM_032580.4:c.635C>A	NP_115969.2:p.Ala212Asp