Canonical Allele Identifier: CA287538416
Community Standard Title: NM_001165967.2(HES7):c.43-7G>A
Gene: HES7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8123133C>T , CM000679.2:g.8123133C>T GRCh38
NC_000017.10:g.8026451C>T , CM000679.1:g.8026451C>T GRCh37
NC_000017.9:g.7967176C>T NCBI36
NG_015807.1:g.784G>A
NG_015816.1:g.5960G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001165967.2:c.43-7G>A MANE Select NP_001159439.1:n.43-7G>A
ENST00000541682.7:c.43-7G>A MANE Select ENSP00000446205.2:n.43-7G>A
NM_001165967.1:c.43-7G>A NP_001159439.1:n.43-7G>A
NM_032580.3:c.43-7G>A NP_115969.2:n.43-7G>A
NM_032580.4:c.43-7G>A NP_115969.2:n.43-7G>A
ENST00000317814.8:c.43-7G>A ENSP00000314774.4:n.43-7G>A
ENST00000541682.6:c.43-7G>A ENSP00000446205.2:n.43-7G>A
ENST00000577735.1:c.19-7G>A ENSP00000462491.1:n.19-7G>A
XM_011524038.1:c.148-7G>A XP_011522340.1:n.148-7G>A
XM_011524039.1:c.132G>A XP_011522341.1:p.Trp44Ter
XM_011524040.1:c.132G>A XP_011522342.1:p.Trp44Ter
XM_011524041.1:c.130-7G>A XP_011522343.1:n.130-7G>A
XM_011524042.1:c.1-7G>A XP_011522344.1:n.1-7G>A
XM_017025232.1:c.148-7G>A XP_016880721.1:n.148-7G>A
XM_024451007.1:c.148-7G>A XP_024306775.1:n.148-7G>A
XR_934203.1:n.69+3319C>T