Canonical Allele Identifier: CA397987925

Gene: HES7

Linked Data

• MyVariant Identifiers: chr17:g.8025094A>C (hg19) ; chr17:g.8121776A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121776A>C , CM000679.2:g.8121776A>C	GRCh38
NC_000017.10:g.8025094A>C , CM000679.1:g.8025094A>C	GRCh37
NC_000017.9:g.7965819A>C	NCBI36
NG_015807.1:g.2141T>G
NG_015816.1:g.7317T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.488T>G MANE Select	ENSP00000446205.2:p.Leu163Arg
ENST00000317814.8:c.473T>G	ENSP00000314774.4:p.Leu158Arg
ENST00000541682.6:c.488T>G	ENSP00000446205.2:p.Leu163Arg
NM_001165967.1:c.488T>G	NP_001159439.1:p.Leu163Arg
NM_032580.3:c.473T>G	NP_115969.2:p.Leu158Arg
XM_011524038.1:c.593T>G	XP_011522340.1:p.Leu198Arg
XM_011524039.1:c.584T>G	XP_011522341.1:p.Leu195Arg
XM_011524040.1:c.584T>G	XP_011522342.1:p.Leu195Arg
XM_011524041.1:c.575T>G	XP_011522343.1:p.Leu192Arg
XM_011524042.1:c.446T>G	XP_011522344.1:p.Leu149Arg
XR_934203.1:n.69+1962A>C
XM_017025232.1:c.593T>G	XP_016880721.1:p.Leu198Arg
XM_024451007.1:c.593T>G	XP_024306775.1:p.Leu198Arg
NM_001165967.2:c.488T>G MANE Select	NP_001159439.1:p.Leu163Arg
NM_032580.4:c.473T>G	NP_115969.2:p.Leu158Arg