Canonical Allele Identifier: CA397987101

Gene: HES7

Linked Data

• MyVariant Identifiers: chr17:g.8024947T>G (hg19) ; chr17:g.8121629T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121629T>G , CM000679.2:g.8121629T>G	GRCh38
NC_000017.10:g.8024947T>G , CM000679.1:g.8024947T>G	GRCh37
NC_000017.9:g.7965672T>G	NCBI36
NG_015807.1:g.2288A>C
NG_015816.1:g.7464A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.635A>C MANE Select	ENSP00000446205.2:p.Asp212Ala
ENST00000317814.8:c.620A>C	ENSP00000314774.4:p.Asp207Ala
ENST00000541682.6:c.635A>C	ENSP00000446205.2:p.Asp212Ala
NM_001165967.1:c.635A>C	NP_001159439.1:p.Asp212Ala
NM_032580.3:c.620A>C	NP_115969.2:p.Asp207Ala
XM_011524038.1:c.740A>C	XP_011522340.1:p.Asp247Ala
XM_011524039.1:c.731A>C	XP_011522341.1:p.Asp244Ala
XM_011524040.1:c.731A>C	XP_011522342.1:p.Asp244Ala
XM_011524041.1:c.722A>C	XP_011522343.1:p.Asp241Ala
XM_011524042.1:c.593A>C	XP_011522344.1:p.Asp198Ala
XR_934203.1:n.69+1815T>G
XM_017025232.1:c.740A>C	XP_016880721.1:p.Asp247Ala
XM_024451007.1:c.740A>C	XP_024306775.1:p.Asp247Ala
NM_001165967.2:c.635A>C MANE Select	NP_001159439.1:p.Asp212Ala
NM_032580.4:c.620A>C	NP_115969.2:p.Asp207Ala