Canonical Allele Identifier: CA397988851
Gene: HES7 HGNC NCBI

Linked Data

dbSNP Id: rs1981368174
gnomAD v3: 17-8121981-T-C
gnomAD v4: 17-8121981-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121981T>C , CM000679.2:g.8121981T>C GRCh38
NC_000017.10:g.8025299T>C , CM000679.1:g.8025299T>C GRCh37
NC_000017.9:g.7966024T>C NCBI36
NG_015807.1:g.1936A>G
NG_015816.1:g.7112A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.283A>G MANE Select ENSP00000446205.2:p.Ser95Gly
ENST00000317814.8:c.268A>G ENSP00000314774.4:p.Ser90Gly
ENST00000541682.6:c.283A>G ENSP00000446205.2:p.Ser95Gly
ENST00000577735.1:c.259A>G ENSP00000462491.1:p.Ser87Gly
NM_001165967.1:c.283A>G NP_001159439.1:p.Ser95Gly
NM_032580.3:c.268A>G NP_115969.2:p.Ser90Gly
XM_011524038.1:c.388A>G XP_011522340.1:p.Ser130Gly
XM_011524039.1:c.379A>G XP_011522341.1:p.Ser127Gly
XM_011524040.1:c.379A>G XP_011522342.1:p.Ser127Gly
XM_011524041.1:c.370A>G XP_011522343.1:p.Ser124Gly
XM_011524042.1:c.241A>G XP_011522344.1:p.Ser81Gly
XR_934203.1:n.69+2167T>C
XM_017025232.1:c.388A>G XP_016880721.1:p.Ser130Gly
XM_024451007.1:c.388A>G XP_024306775.1:p.Ser130Gly
NM_001165967.2:c.283A>G MANE Select NP_001159439.1:p.Ser95Gly
NM_032580.4:c.268A>G NP_115969.2:p.Ser90Gly