Canonical Allele Identifier: CA497955458

Gene: HES7

Linked Data

• dbSNP Id: rs1981372549
• gnomAD v3: 17-8122027-A-C
• gnomAD v4: 17-8122027-A-C
• MyVariant Identifiers: chr17:g.8025345A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122027A>C , CM000679.2:g.8122027A>C	GRCh38
NC_000017.10:g.8025345A>C , CM000679.1:g.8025345A>C	GRCh37
NC_000017.9:g.7966070A>C	NCBI36
NG_015807.1:g.1890T>G
NG_015816.1:g.7066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.237T>G MANE Select	ENSP00000446205.2:p.Ala79=
ENST00000317814.8:c.227-5T>G	ENSP00000314774.4:n.227-5T>G
ENST00000541682.6:c.237T>G	ENSP00000446205.2:p.Ala79=
ENST00000577735.1:c.213T>G	ENSP00000462491.1:p.Ala71=
NM_001165967.1:c.237T>G	NP_001159439.1:p.Ala79=
NM_032580.3:c.227-5T>G	NP_115969.2:n.227-5T>G
XM_011524038.1:c.342T>G	XP_011522340.1:p.Ala114=
XM_011524039.1:c.333T>G	XP_011522341.1:p.Ala111=
XM_011524040.1:c.333T>G	XP_011522342.1:p.Ala111=
XM_011524041.1:c.324T>G	XP_011522343.1:p.Ala108=
XM_011524042.1:c.195T>G	XP_011522344.1:p.Ala65=
XR_934203.1:n.69+2213A>C
XM_017025232.1:c.342T>G	XP_016880721.1:p.Ala114=
XM_024451007.1:c.342T>G	XP_024306775.1:p.Ala114=
NM_001165967.2:c.237T>G MANE Select	NP_001159439.1:p.Ala79=
NM_032580.4:c.227-5T>G	NP_115969.2:n.227-5T>G