Canonical Allele Identifier: CA397989123

Gene: HES7

Linked Data

• MyVariant Identifiers: chr17:g.8025347C>G (hg19) ; chr17:g.8122029C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122029C>G , CM000679.2:g.8122029C>G	GRCh38
NC_000017.10:g.8025347C>G , CM000679.1:g.8025347C>G	GRCh37
NC_000017.9:g.7966072C>G	NCBI36
NG_015807.1:g.1888G>C
NG_015816.1:g.7064G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.235G>C MANE Select	ENSP00000446205.2:p.Ala79Pro
ENST00000317814.8:c.227-7G>C	ENSP00000314774.4:n.227-7G>C
ENST00000541682.6:c.235G>C	ENSP00000446205.2:p.Ala79Pro
ENST00000577735.1:c.211G>C	ENSP00000462491.1:p.Ala71Pro
NM_001165967.1:c.235G>C	NP_001159439.1:p.Ala79Pro
NM_032580.3:c.227-7G>C	NP_115969.2:n.227-7G>C
XM_011524038.1:c.340G>C	XP_011522340.1:p.Ala114Pro
XM_011524039.1:c.331G>C	XP_011522341.1:p.Ala111Pro
XM_011524040.1:c.331G>C	XP_011522342.1:p.Ala111Pro
XM_011524041.1:c.322G>C	XP_011522343.1:p.Ala108Pro
XM_011524042.1:c.193G>C	XP_011522344.1:p.Ala65Pro
XR_934203.1:n.69+2215C>G
XM_017025232.1:c.340G>C	XP_016880721.1:p.Ala114Pro
XM_024451007.1:c.340G>C	XP_024306775.1:p.Ala114Pro
NM_001165967.2:c.235G>C MANE Select	NP_001159439.1:p.Ala79Pro
NM_032580.4:c.227-7G>C	NP_115969.2:n.227-7G>C