Canonical Allele Identifier: CA397989007

Gene: HES7

Linked Data

• dbSNP Id: rs1234796235
• gnomAD v2: 17-8025328-G-C
• gnomAD v4: 17-8122010-G-C
• MyVariant Identifiers: chr17:g.8025328G>C (hg19) ; chr17:g.8122010G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122010G>C , CM000679.2:g.8122010G>C	GRCh38
NC_000017.10:g.8025328G>C , CM000679.1:g.8025328G>C	GRCh37
NC_000017.9:g.7966053G>C	NCBI36
NG_015807.1:g.1907C>G
NG_015816.1:g.7083C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.254C>G MANE Select	ENSP00000446205.2:p.Ser85Cys
ENST00000317814.8:c.239C>G	ENSP00000314774.4:p.Ser80Cys
ENST00000541682.6:c.254C>G	ENSP00000446205.2:p.Ser85Cys
ENST00000577735.1:c.230C>G	ENSP00000462491.1:p.Ser77Cys
NM_001165967.1:c.254C>G	NP_001159439.1:p.Ser85Cys
NM_032580.3:c.239C>G	NP_115969.2:p.Ser80Cys
XM_011524038.1:c.359C>G	XP_011522340.1:p.Ser120Cys
XM_011524039.1:c.350C>G	XP_011522341.1:p.Ser117Cys
XM_011524040.1:c.350C>G	XP_011522342.1:p.Ser117Cys
XM_011524041.1:c.341C>G	XP_011522343.1:p.Ser114Cys
XM_011524042.1:c.212C>G	XP_011522344.1:p.Ser71Cys
XR_934203.1:n.69+2196G>C
XM_017025232.1:c.359C>G	XP_016880721.1:p.Ser120Cys
XM_024451007.1:c.359C>G	XP_024306775.1:p.Ser120Cys
NM_001165967.2:c.254C>G MANE Select	NP_001159439.1:p.Ser85Cys
NM_032580.4:c.239C>G	NP_115969.2:p.Ser80Cys