Canonical Allele Identifier: CA397989098

Gene: HES7

Linked Data

• gnomAD v4: 17-8122024-T-A
• MyVariant Identifiers: chr17:g.8025342T>A (hg19) ; chr17:g.8122024T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122024T>A , CM000679.2:g.8122024T>A	GRCh38
NC_000017.10:g.8025342T>A , CM000679.1:g.8025342T>A	GRCh37
NC_000017.9:g.7966067T>A	NCBI36
NG_015807.1:g.1893A>T
NG_015816.1:g.7069A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.240A>T MANE Select	ENSP00000446205.2:p.Pro80=
ENST00000317814.8:c.227-2A>T	ENSP00000314774.4:n.227-2A>T
ENST00000541682.6:c.240A>T	ENSP00000446205.2:p.Pro80=
ENST00000577735.1:c.216A>T	ENSP00000462491.1:p.Pro72=
NM_001165967.1:c.240A>T	NP_001159439.1:p.Pro80=
NM_032580.3:c.227-2A>T	NP_115969.2:n.227-2A>T
XM_011524038.1:c.345A>T	XP_011522340.1:p.Pro115=
XM_011524039.1:c.336A>T	XP_011522341.1:p.Pro112=
XM_011524040.1:c.336A>T	XP_011522342.1:p.Pro112=
XM_011524041.1:c.327A>T	XP_011522343.1:p.Pro109=
XM_011524042.1:c.198A>T	XP_011522344.1:p.Pro66=
XR_934203.1:n.69+2210T>A
XM_017025232.1:c.345A>T	XP_016880721.1:p.Pro115=
XM_024451007.1:c.345A>T	XP_024306775.1:p.Pro115=
NM_001165967.2:c.240A>T MANE Select	NP_001159439.1:p.Pro80=
NM_032580.4:c.227-2A>T	NP_115969.2:n.227-2A>T