Canonical Allele Identifier: CA397987121
Gene: HES7 HGNC NCBI

Linked Data

gnomAD v4: 17-8121632-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121632T>C , CM000679.2:g.8121632T>C GRCh38
NC_000017.10:g.8024950T>C , CM000679.1:g.8024950T>C GRCh37
NC_000017.9:g.7965675T>C NCBI36
NG_015807.1:g.2285A>G
NG_015816.1:g.7461A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.632A>G MANE Select ENSP00000446205.2:p.Gln211Arg
ENST00000317814.8:c.617A>G ENSP00000314774.4:p.Gln206Arg
ENST00000541682.6:c.632A>G ENSP00000446205.2:p.Gln211Arg
NM_001165967.1:c.632A>G NP_001159439.1:p.Gln211Arg
NM_032580.3:c.617A>G NP_115969.2:p.Gln206Arg
XM_011524038.1:c.737A>G XP_011522340.1:p.Gln246Arg
XM_011524039.1:c.728A>G XP_011522341.1:p.Gln243Arg
XM_011524040.1:c.728A>G XP_011522342.1:p.Gln243Arg
XM_011524041.1:c.719A>G XP_011522343.1:p.Gln240Arg
XM_011524042.1:c.590A>G XP_011522344.1:p.Gln197Arg
XR_934203.1:n.69+1818T>C
XM_017025232.1:c.737A>G XP_016880721.1:p.Gln246Arg
XM_024451007.1:c.737A>G XP_024306775.1:p.Gln246Arg
NM_001165967.2:c.632A>G MANE Select NP_001159439.1:p.Gln211Arg
NM_032580.4:c.617A>G NP_115969.2:p.Gln206Arg