Canonical Allele Identifier: CA2635934715
Gene: HES7 HGNC NCBI

Linked Data

gnomAD v4: 17-8120822-C-T
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Genomic Alleles

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

Transcript Alleles

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