Canonical Allele Identifier: CA2635943231

Gene: HES7

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8123987G>A , CM000679.2:g.8123987G>A	GRCh38
NC_000017.10:g.8027305G>A , CM000679.1:g.8027305G>A	GRCh37
NC_000017.9:g.7968030G>A	NCBI36
NG_015816.1:g.5106C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001165967.2:c.42+56C>T MANE Select	NP_001159439.1:n.42+56C>T
ENST00000541682.7:c.42+56C>T MANE Select	ENSP00000446205.2:n.42+56C>T
NM_001165967.1:c.42+56C>T	NP_001159439.1:n.42+56C>T
NM_032580.3:c.42+56C>T	NP_115969.2:n.42+56C>T
NM_032580.4:c.42+56C>T	NP_115969.2:n.42+56C>T
ENST00000317814.8:c.42+56C>T	ENSP00000314774.4:n.42+56C>T
ENST00000541682.6:c.42+56C>T	ENSP00000446205.2:n.42+56C>T
ENST00000577735.1:c.-169+56C>T	ENSP00000462491.1:n.-169+56C>T
XM_011524038.1:c.147+56C>T	XP_011522340.1:n.147+56C>T
XM_011524039.1:c.-242+56C>T	XP_011522341.1:n.-242+56C>T
XM_011524040.1:c.-242+56C>T	XP_011522342.1:n.-242+56C>T
XM_011524041.1:c.130-861C>T	XP_011522343.1:n.130-861C>T
XM_011524042.1:c.-460C>T	XP_011522344.1:n.-460C>T
XM_017025232.1:c.147+56C>T	XP_016880721.1:n.147+56C>T
XM_024451007.1:c.147+56C>T	XP_024306775.1:n.147+56C>T
XR_934203.1:n.69+4173G>A