Canonical Allele Identifier: CA2635938764
Gene: HES7 HGNC NCBI

Linked Data

gnomAD v4: 17-8122046-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8122046G>T , CM000679.2:g.8122046G>T GRCh38
NC_000017.10:g.8025364G>T , CM000679.1:g.8025364G>T GRCh37
NC_000017.9:g.7966089G>T NCBI36
NG_015807.1:g.1871C>A
NG_015816.1:g.7047C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.227-9C>A MANE Select ENSP00000446205.2:n.227-9C>A
ENST00000317814.8:c.227-24C>A ENSP00000314774.4:n.227-24C>A
ENST00000541682.6:c.227-9C>A ENSP00000446205.2:n.227-9C>A
ENST00000577735.1:c.203-9C>A ENSP00000462491.1:n.203-9C>A
NM_001165967.1:c.227-9C>A NP_001159439.1:n.227-9C>A
NM_032580.3:c.227-24C>A NP_115969.2:n.227-24C>A
XM_011524038.1:c.332-9C>A XP_011522340.1:n.332-9C>A
XM_011524039.1:c.323-9C>A XP_011522341.1:n.323-9C>A
XM_011524040.1:c.323-9C>A XP_011522342.1:n.323-9C>A
XM_011524041.1:c.314-9C>A XP_011522343.1:n.314-9C>A
XM_011524042.1:c.185-9C>A XP_011522344.1:n.185-9C>A
XR_934203.1:n.69+2232G>T
XM_017025232.1:c.332-9C>A XP_016880721.1:n.332-9C>A
XM_024451007.1:c.332-9C>A XP_024306775.1:n.332-9C>A
NM_001165967.2:c.227-9C>A MANE Select NP_001159439.1:n.227-9C>A
NM_032580.4:c.227-24C>A NP_115969.2:n.227-24C>A