Canonical Allele Identifier: CA497955392

Gene: HES7

Linked Data

• dbSNP Id: rs1213578792
• gnomAD v2: 17-8025315-G-A
• gnomAD v4: 17-8121997-G-A
• MyVariant Identifiers: chr17:g.8025315G>A (hg19) ; chr17:g.8121997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121997G>A , CM000679.2:g.8121997G>A	GRCh38
NC_000017.10:g.8025315G>A , CM000679.1:g.8025315G>A	GRCh37
NC_000017.9:g.7966040G>A	NCBI36
NG_015807.1:g.1920C>T
NG_015816.1:g.7096C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.267C>T MANE Select	ENSP00000446205.2:p.Asp89=
ENST00000317814.8:c.252C>T	ENSP00000314774.4:p.Asp84=
ENST00000541682.6:c.267C>T	ENSP00000446205.2:p.Asp89=
ENST00000577735.1:c.243C>T	ENSP00000462491.1:p.Asp81=
NM_001165967.1:c.267C>T	NP_001159439.1:p.Asp89=
NM_032580.3:c.252C>T	NP_115969.2:p.Asp84=
XM_011524038.1:c.372C>T	XP_011522340.1:p.Asp124=
XM_011524039.1:c.363C>T	XP_011522341.1:p.Asp121=
XM_011524040.1:c.363C>T	XP_011522342.1:p.Asp121=
XM_011524041.1:c.354C>T	XP_011522343.1:p.Asp118=
XM_011524042.1:c.225C>T	XP_011522344.1:p.Asp75=
XR_934203.1:n.69+2183G>A
XM_017025232.1:c.372C>T	XP_016880721.1:p.Asp124=
XM_024451007.1:c.372C>T	XP_024306775.1:p.Asp124=
NM_001165967.2:c.267C>T MANE Select	NP_001159439.1:p.Asp89=
NM_032580.4:c.252C>T	NP_115969.2:p.Asp84=