Canonical Allele Identifier: CA2576161680
Gene: HES7 HGNC NCBI

Linked Data

gnomAD v4: 17-8122068-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8122068A>C , CM000679.2:g.8122068A>C GRCh38
NC_000017.10:g.8025386A>C , CM000679.1:g.8025386A>C GRCh37
NC_000017.9:g.7966111A>C NCBI36
NG_015807.1:g.1849T>G
NG_015816.1:g.7025T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.227-31T>G MANE Select ENSP00000446205.2:n.227-31T>G
ENST00000317814.8:c.227-46T>G ENSP00000314774.4:n.227-46T>G
ENST00000541682.6:c.227-31T>G ENSP00000446205.2:n.227-31T>G
ENST00000577735.1:c.203-31T>G ENSP00000462491.1:n.203-31T>G
NM_001165967.1:c.227-31T>G NP_001159439.1:n.227-31T>G
NM_032580.3:c.227-46T>G NP_115969.2:n.227-46T>G
XM_011524038.1:c.332-31T>G XP_011522340.1:n.332-31T>G
XM_011524039.1:c.323-31T>G XP_011522341.1:n.323-31T>G
XM_011524040.1:c.323-31T>G XP_011522342.1:n.323-31T>G
XM_011524041.1:c.314-31T>G XP_011522343.1:n.314-31T>G
XM_011524042.1:c.185-31T>G XP_011522344.1:n.185-31T>G
XR_934203.1:n.69+2254A>C
XM_017025232.1:c.332-31T>G XP_016880721.1:n.332-31T>G
XM_024451007.1:c.332-31T>G XP_024306775.1:n.332-31T>G
NM_001165967.2:c.227-31T>G MANE Select NP_001159439.1:n.227-31T>G
NM_032580.4:c.227-46T>G NP_115969.2:n.227-46T>G