Canonical Allele Identifier: CA497955383

Gene: HES7

Linked Data

• gnomAD v4: 17-8121994-G-A
• MyVariant Identifiers: chr17:g.8025312G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121994G>A , CM000679.2:g.8121994G>A	GRCh38
NC_000017.10:g.8025312G>A , CM000679.1:g.8025312G>A	GRCh37
NC_000017.9:g.7966037G>A	NCBI36
NG_015807.1:g.1923C>T
NG_015816.1:g.7099C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.270C>T MANE Select	ENSP00000446205.2:p.Ala90=
ENST00000317814.8:c.255C>T	ENSP00000314774.4:p.Ala85=
ENST00000541682.6:c.270C>T	ENSP00000446205.2:p.Ala90=
ENST00000577735.1:c.246C>T	ENSP00000462491.1:p.Ala82=
NM_001165967.1:c.270C>T	NP_001159439.1:p.Ala90=
NM_032580.3:c.255C>T	NP_115969.2:p.Ala85=
XM_011524038.1:c.375C>T	XP_011522340.1:p.Ala125=
XM_011524039.1:c.366C>T	XP_011522341.1:p.Ala122=
XM_011524040.1:c.366C>T	XP_011522342.1:p.Ala122=
XM_011524041.1:c.357C>T	XP_011522343.1:p.Ala119=
XM_011524042.1:c.228C>T	XP_011522344.1:p.Ala76=
XR_934203.1:n.69+2180G>A
XM_017025232.1:c.375C>T	XP_016880721.1:p.Ala125=
XM_024451007.1:c.375C>T	XP_024306775.1:p.Ala125=
NM_001165967.2:c.270C>T MANE Select	NP_001159439.1:p.Ala90=
NM_032580.4:c.255C>T	NP_115969.2:p.Ala85=