Canonical Allele Identifier: CA397988720

Gene: HES7

Linked Data

• gnomAD v4: 17-8121959-C-G
• MyVariant Identifiers: chr17:g.8025277C>G (hg19) ; chr17:g.8121959C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121959C>G , CM000679.2:g.8121959C>G	GRCh38
NC_000017.10:g.8025277C>G , CM000679.1:g.8025277C>G	GRCh37
NC_000017.9:g.7966002C>G	NCBI36
NG_015807.1:g.1958G>C
NG_015816.1:g.7134G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.305G>C MANE Select	ENSP00000446205.2:p.Arg102Pro
ENST00000317814.8:c.290G>C	ENSP00000314774.4:p.Arg97Pro
ENST00000541682.6:c.305G>C	ENSP00000446205.2:p.Arg102Pro
ENST00000577735.1:c.281G>C	ENSP00000462491.1:p.Arg94Pro
NM_001165967.1:c.305G>C	NP_001159439.1:p.Arg102Pro
NM_032580.3:c.290G>C	NP_115969.2:p.Arg97Pro
XM_011524038.1:c.410G>C	XP_011522340.1:p.Arg137Pro
XM_011524039.1:c.401G>C	XP_011522341.1:p.Arg134Pro
XM_011524040.1:c.401G>C	XP_011522342.1:p.Arg134Pro
XM_011524041.1:c.392G>C	XP_011522343.1:p.Arg131Pro
XM_011524042.1:c.263G>C	XP_011522344.1:p.Arg88Pro
XR_934203.1:n.69+2145C>G
XM_017025232.1:c.410G>C	XP_016880721.1:p.Arg137Pro
XM_024451007.1:c.410G>C	XP_024306775.1:p.Arg137Pro
NM_001165967.2:c.305G>C MANE Select	NP_001159439.1:p.Arg102Pro
NM_032580.4:c.290G>C	NP_115969.2:p.Arg97Pro