Canonical Allele Identifier: CA2246158075
Gene: HES7 HGNC NCBI

Linked Data

dbSNP Id: rs1981250347
gnomAD v4: 17-8120822-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8120822C>A , CM000679.2:g.8120822C>A GRCh38
NC_000017.10:g.8024140C>A , CM000679.1:g.8024140C>A GRCh37
NC_000017.9:g.7964865C>A NCBI36
NG_015807.1:g.3095G>T
NG_015816.1:g.8271G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.*749G>T MANE Select ENSP00000446205.2:n.*749G>T
ENST00000541682.6:c.1442G>T ENSP00000446205.2:n.1442G>T
NM_001165967.1:c.*749G>T NP_001159439.1:n.*749G>T
NM_032580.3:c.*749G>T NP_115969.2:n.*749G>T
XM_011524038.1:c.*749G>T XP_011522340.1:n.*749G>T
XR_934203.1:n.69+1008C>A
XM_017025232.1:c.*749G>T XP_016880721.1:n.*749G>T
XM_024451007.1:c.*749G>T XP_024306775.1:n.*749G>T
NM_001165967.2:c.*749G>T MANE Select NP_001159439.1:n.*749G>T
NM_032580.4:c.*749G>T NP_115969.2:n.*749G>T