Canonical Allele Identifier: CA397989121

Gene: HES7

Linked Data

• gnomAD v4: 17-8122029-C-A
• MyVariant Identifiers: chr17:g.8025347C>A (hg19) ; chr17:g.8122029C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.235G>T MANE Select	ENSP00000446205.2:p.Ala79Ser
ENST00000317814.8:c.227-7G>T	ENSP00000314774.4:n.227-7G>T
ENST00000541682.6:c.235G>T	ENSP00000446205.2:p.Ala79Ser
ENST00000577735.1:c.211G>T	ENSP00000462491.1:p.Ala71Ser
NM_001165967.1:c.235G>T	NP_001159439.1:p.Ala79Ser
NM_032580.3:c.227-7G>T	NP_115969.2:n.227-7G>T
XM_011524038.1:c.340G>T	XP_011522340.1:p.Ala114Ser
XM_011524039.1:c.331G>T	XP_011522341.1:p.Ala111Ser
XM_011524040.1:c.331G>T	XP_011522342.1:p.Ala111Ser
XM_011524041.1:c.322G>T	XP_011522343.1:p.Ala108Ser
XM_011524042.1:c.193G>T	XP_011522344.1:p.Ala65Ser
XR_934203.1:n.69+2215C>A
XM_017025232.1:c.340G>T	XP_016880721.1:p.Ala114Ser
XM_024451007.1:c.340G>T	XP_024306775.1:p.Ala114Ser
NM_001165967.2:c.235G>T MANE Select	NP_001159439.1:p.Ala79Ser
NM_032580.4:c.227-7G>T	NP_115969.2:n.227-7G>T