Canonical Allele Identifier: CA2635936581
Gene: HES7 HGNC NCBI

Linked Data

gnomAD v4: 17-8121569-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121569G>A , CM000679.2:g.8121569G>A GRCh38
NC_000017.10:g.8024887G>A , CM000679.1:g.8024887G>A GRCh37
NC_000017.9:g.7965612G>A NCBI36
NG_015807.1:g.2348C>T
NG_015816.1:g.7524C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.*2C>T MANE Select ENSP00000446205.2:n.*2C>T
ENST00000541682.6:c.695C>T ENSP00000446205.2:n.695C>T
NM_001165967.1:c.*2C>T NP_001159439.1:n.*2C>T
NM_032580.3:c.*2C>T NP_115969.2:n.*2C>T
XM_011524038.1:c.*2C>T XP_011522340.1:n.*2C>T
XM_011524039.1:c.*2C>T XP_011522341.1:n.*2C>T
XM_011524040.1:c.*2C>T XP_011522342.1:n.*2C>T
XM_011524041.1:c.*2C>T XP_011522343.1:n.*2C>T
XM_011524042.1:c.*2C>T XP_011522344.1:n.*2C>T
XR_934203.1:n.69+1755G>A
XM_017025232.1:c.*2C>T XP_016880721.1:n.*2C>T
XM_024451007.1:c.*2C>T XP_024306775.1:n.*2C>T
NM_001165967.2:c.*2C>T MANE Select NP_001159439.1:n.*2C>T
NM_032580.4:c.*2C>T NP_115969.2:n.*2C>T