Canonical Allele Identifier: CA497955507

Gene: HES7

Linked Data

• dbSNP Id: rs1981363699
• gnomAD v4: 17-8121937-C-A
• MyVariant Identifiers: chr17:g.8025255C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121937C>A , CM000679.2:g.8121937C>A	GRCh38
NC_000017.10:g.8025255C>A , CM000679.1:g.8025255C>A	GRCh37
NC_000017.9:g.7965980C>A	NCBI36
NG_015807.1:g.1980G>T
NG_015816.1:g.7156G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.327G>T MANE Select	ENSP00000446205.2:p.Ala109=
ENST00000317814.8:c.312G>T	ENSP00000314774.4:p.Ala104=
ENST00000541682.6:c.327G>T	ENSP00000446205.2:p.Ala109=
ENST00000577735.1:c.303G>T	ENSP00000462491.1:p.Ala101=
NM_001165967.1:c.327G>T	NP_001159439.1:p.Ala109=
NM_032580.3:c.312G>T	NP_115969.2:p.Ala104=
XM_011524038.1:c.432G>T	XP_011522340.1:p.Ala144=
XM_011524039.1:c.423G>T	XP_011522341.1:p.Ala141=
XM_011524040.1:c.423G>T	XP_011522342.1:p.Ala141=
XM_011524041.1:c.414G>T	XP_011522343.1:p.Ala138=
XM_011524042.1:c.285G>T	XP_011522344.1:p.Ala95=
XR_934203.1:n.69+2123C>A
XM_017025232.1:c.432G>T	XP_016880721.1:p.Ala144=
XM_024451007.1:c.432G>T	XP_024306775.1:p.Ala144=
NM_001165967.2:c.327G>T MANE Select	NP_001159439.1:p.Ala109=
NM_032580.4:c.312G>T	NP_115969.2:p.Ala104=