Canonical Allele Identifier: CA497760819

Gene: HES7

Linked Data

• gnomAD v4: 17-8121634-T-C
• MyVariant Identifiers: chr17:g.8024952T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121634T>C , CM000679.2:g.8121634T>C	GRCh38
NC_000017.10:g.8024952T>C , CM000679.1:g.8024952T>C	GRCh37
NC_000017.9:g.7965677T>C	NCBI36
NG_015807.1:g.2283A>G
NG_015816.1:g.7459A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.630A>G MANE Select	ENSP00000446205.2:p.Arg210=
ENST00000317814.8:c.615A>G	ENSP00000314774.4:p.Arg205=
ENST00000541682.6:c.630A>G	ENSP00000446205.2:p.Arg210=
NM_001165967.1:c.630A>G	NP_001159439.1:p.Arg210=
NM_032580.3:c.615A>G	NP_115969.2:p.Arg205=
XM_011524038.1:c.735A>G	XP_011522340.1:p.Arg245=
XM_011524039.1:c.726A>G	XP_011522341.1:p.Arg242=
XM_011524040.1:c.726A>G	XP_011522342.1:p.Arg242=
XM_011524041.1:c.717A>G	XP_011522343.1:p.Arg239=
XM_011524042.1:c.588A>G	XP_011522344.1:p.Arg196=
XR_934203.1:n.69+1820T>C
XM_017025232.1:c.735A>G	XP_016880721.1:p.Arg245=
XM_024451007.1:c.735A>G	XP_024306775.1:p.Arg245=
NM_001165967.2:c.630A>G MANE Select	NP_001159439.1:p.Arg210=
NM_032580.4:c.615A>G	NP_115969.2:p.Arg205=