Canonical Allele Identifier: CA287537298

Gene: HES7

Linked Data

• ClinVar Variation Id: 1369939
• ClinVar RCV Id: RCV001870893
• dbSNP Id: rs376794942
• gnomAD v2: 17-8025202-A-C
• gnomAD v3: 17-8121884-A-C
• gnomAD v4: 17-8121884-A-C
• MyVariant Identifiers: chr17:g.8025202A>C (hg19) ; chr17:g.8121884A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121884A>C , CM000679.2:g.8121884A>C	GRCh38
NC_000017.10:g.8025202A>C , CM000679.1:g.8025202A>C	GRCh37
NC_000017.9:g.7965927A>C	NCBI36
NG_015807.1:g.2033T>G
NG_015816.1:g.7209T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.380T>G MANE Select	ENSP00000446205.2:p.Leu127Arg
ENST00000317814.8:c.365T>G	ENSP00000314774.4:p.Leu122Arg
ENST00000541682.6:c.380T>G	ENSP00000446205.2:p.Leu127Arg
ENST00000577735.1:c.356T>G	ENSP00000462491.1:p.Leu119Arg
NM_001165967.1:c.380T>G	NP_001159439.1:p.Leu127Arg
NM_032580.3:c.365T>G	NP_115969.2:p.Leu122Arg
XM_011524038.1:c.485T>G	XP_011522340.1:p.Leu162Arg
XM_011524039.1:c.476T>G	XP_011522341.1:p.Leu159Arg
XM_011524040.1:c.476T>G	XP_011522342.1:p.Leu159Arg
XM_011524041.1:c.467T>G	XP_011522343.1:p.Leu156Arg
XM_011524042.1:c.338T>G	XP_011522344.1:p.Leu113Arg
XR_934203.1:n.69+2070A>C
XM_017025232.1:c.485T>G	XP_016880721.1:p.Leu162Arg
XM_024451007.1:c.485T>G	XP_024306775.1:p.Leu162Arg
NM_001165967.2:c.380T>G MANE Select	NP_001159439.1:p.Leu127Arg
NM_032580.4:c.365T>G	NP_115969.2:p.Leu122Arg