Canonical Allele Identifier: CA497955280
Gene: HES7 HGNC NCBI

Linked Data

gnomAD v4: 17-8121955-C-T
MyVariant Identifiers: chr17:g.8025273C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121955C>T , CM000679.2:g.8121955C>T GRCh38
NC_000017.10:g.8025273C>T , CM000679.1:g.8025273C>T GRCh37
NC_000017.9:g.7965998C>T NCBI36
NG_015807.1:g.1962G>A
NG_015816.1:g.7138G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.309G>A MANE Select ENSP00000446205.2:p.Glu103=
ENST00000317814.8:c.294G>A ENSP00000314774.4:p.Glu98=
ENST00000541682.6:c.309G>A ENSP00000446205.2:p.Glu103=
ENST00000577735.1:c.285G>A ENSP00000462491.1:p.Glu95=
NM_001165967.1:c.309G>A NP_001159439.1:p.Glu103=
NM_032580.3:c.294G>A NP_115969.2:p.Glu98=
XM_011524038.1:c.414G>A XP_011522340.1:p.Glu138=
XM_011524039.1:c.405G>A XP_011522341.1:p.Glu135=
XM_011524040.1:c.405G>A XP_011522342.1:p.Glu135=
XM_011524041.1:c.396G>A XP_011522343.1:p.Glu132=
XM_011524042.1:c.267G>A XP_011522344.1:p.Glu89=
XR_934203.1:n.69+2141C>T
XM_017025232.1:c.414G>A XP_016880721.1:p.Glu138=
XM_024451007.1:c.414G>A XP_024306775.1:p.Glu138=
NM_001165967.2:c.309G>A MANE Select NP_001159439.1:p.Glu103=
NM_032580.4:c.294G>A NP_115969.2:p.Glu98=