Canonical Allele Identifier: CA8368672

Gene: HES7

Linked Data

• dbSNP Id: rs768755302
• ExAC: 17:8025346 G / A
• gnomAD v2: 17-8025346-G-A
• gnomAD v3: 17-8122028-G-A
• gnomAD v4: 17-8122028-G-A
• MyVariant Identifiers: chr17:g.8025346G>A (hg19) ; chr17:g.8122028G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122028G>A , CM000679.2:g.8122028G>A	GRCh38
NC_000017.10:g.8025346G>A , CM000679.1:g.8025346G>A	GRCh37
NC_000017.9:g.7966071G>A	NCBI36
NG_015807.1:g.1889C>T
NG_015816.1:g.7065C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.236C>T MANE Select	ENSP00000446205.2:p.Ala79Val
ENST00000317814.8:c.227-6C>T	ENSP00000314774.4:n.227-6C>T
ENST00000541682.6:c.236C>T	ENSP00000446205.2:p.Ala79Val
ENST00000577735.1:c.212C>T	ENSP00000462491.1:p.Ala71Val
NM_001165967.1:c.236C>T	NP_001159439.1:p.Ala79Val
NM_032580.3:c.227-6C>T	NP_115969.2:n.227-6C>T
XM_011524038.1:c.341C>T	XP_011522340.1:p.Ala114Val
XM_011524039.1:c.332C>T	XP_011522341.1:p.Ala111Val
XM_011524040.1:c.332C>T	XP_011522342.1:p.Ala111Val
XM_011524041.1:c.323C>T	XP_011522343.1:p.Ala108Val
XM_011524042.1:c.194C>T	XP_011522344.1:p.Ala65Val
XR_934203.1:n.69+2214G>A
XM_017025232.1:c.341C>T	XP_016880721.1:p.Ala114Val
XM_024451007.1:c.341C>T	XP_024306775.1:p.Ala114Val
NM_001165967.2:c.236C>T MANE Select	NP_001159439.1:p.Ala79Val
NM_032580.4:c.227-6C>T	NP_115969.2:n.227-6C>T