Canonical Allele Identifier: CA397986945
Gene: HES7 HGNC NCBI

Linked Data

dbSNP Id: rs1981323942
gnomAD v4: 17-8121597-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121597G>A , CM000679.2:g.8121597G>A GRCh38
NC_000017.10:g.8024915G>A , CM000679.1:g.8024915G>A GRCh37
NC_000017.9:g.7965640G>A NCBI36
NG_015807.1:g.2320C>T
NG_015816.1:g.7496C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.667C>T MANE Select ENSP00000446205.2:p.Pro223Ser
ENST00000317814.8:c.652C>T ENSP00000314774.4:p.Pro218Ser
ENST00000541682.6:c.667C>T ENSP00000446205.2:p.Pro223Ser
NM_001165967.1:c.667C>T NP_001159439.1:p.Pro223Ser
NM_032580.3:c.652C>T NP_115969.2:p.Pro218Ser
XM_011524038.1:c.772C>T XP_011522340.1:p.Pro258Ser
XM_011524039.1:c.763C>T XP_011522341.1:p.Pro255Ser
XM_011524040.1:c.763C>T XP_011522342.1:p.Pro255Ser
XM_011524041.1:c.754C>T XP_011522343.1:p.Pro252Ser
XM_011524042.1:c.625C>T XP_011522344.1:p.Pro209Ser
XR_934203.1:n.69+1783G>A
XM_017025232.1:c.772C>T XP_016880721.1:p.Pro258Ser
XM_024451007.1:c.772C>T XP_024306775.1:p.Pro258Ser
NM_001165967.2:c.667C>T MANE Select NP_001159439.1:p.Pro223Ser
NM_032580.4:c.652C>T NP_115969.2:p.Pro218Ser