Canonical Allele Identifier: CA497955468

Gene: HES7

Linked Data

• gnomAD v4: 17-8122033-G-A
• MyVariant Identifiers: chr17:g.8025351G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122033G>A , CM000679.2:g.8122033G>A	GRCh38
NC_000017.10:g.8025351G>A , CM000679.1:g.8025351G>A	GRCh37
NC_000017.9:g.7966076G>A	NCBI36
NG_015807.1:g.1884C>T
NG_015816.1:g.7060C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.231C>T MANE Select	ENSP00000446205.2:p.Ala77=
ENST00000317814.8:c.227-11C>T	ENSP00000314774.4:n.227-11C>T
ENST00000541682.6:c.231C>T	ENSP00000446205.2:p.Ala77=
ENST00000577735.1:c.207C>T	ENSP00000462491.1:p.Ala69=
NM_001165967.1:c.231C>T	NP_001159439.1:p.Ala77=
NM_032580.3:c.227-11C>T	NP_115969.2:n.227-11C>T
XM_011524038.1:c.336C>T	XP_011522340.1:p.Ala112=
XM_011524039.1:c.327C>T	XP_011522341.1:p.Ala109=
XM_011524040.1:c.327C>T	XP_011522342.1:p.Ala109=
XM_011524041.1:c.318C>T	XP_011522343.1:p.Ala106=
XM_011524042.1:c.189C>T	XP_011522344.1:p.Ala63=
XR_934203.1:n.69+2219G>A
XM_017025232.1:c.336C>T	XP_016880721.1:p.Ala112=
XM_024451007.1:c.336C>T	XP_024306775.1:p.Ala112=
NM_001165967.2:c.231C>T MANE Select	NP_001159439.1:p.Ala77=
NM_032580.4:c.227-11C>T	NP_115969.2:n.227-11C>T