Canonical Allele Identifier: CA397988458

Gene: HES7

Linked Data

• dbSNP Id: rs1461178134
• gnomAD v3: 17-8121897-G-C
• gnomAD v4: 17-8121897-G-C
• MyVariant Identifiers: chr17:g.8025215G>C (hg19) ; chr17:g.8121897G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121897G>C , CM000679.2:g.8121897G>C	GRCh38
NC_000017.10:g.8025215G>C , CM000679.1:g.8025215G>C	GRCh37
NC_000017.9:g.7965940G>C	NCBI36
NG_015807.1:g.2020C>G
NG_015816.1:g.7196C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.367C>G MANE Select	ENSP00000446205.2:p.Leu123Val
ENST00000317814.8:c.352C>G	ENSP00000314774.4:p.Leu118Val
ENST00000541682.6:c.367C>G	ENSP00000446205.2:p.Leu123Val
ENST00000577735.1:c.343C>G	ENSP00000462491.1:p.Leu115Val
NM_001165967.1:c.367C>G	NP_001159439.1:p.Leu123Val
NM_032580.3:c.352C>G	NP_115969.2:p.Leu118Val
XM_011524038.1:c.472C>G	XP_011522340.1:p.Leu158Val
XM_011524039.1:c.463C>G	XP_011522341.1:p.Leu155Val
XM_011524040.1:c.463C>G	XP_011522342.1:p.Leu155Val
XM_011524041.1:c.454C>G	XP_011522343.1:p.Leu152Val
XM_011524042.1:c.325C>G	XP_011522344.1:p.Leu109Val
XR_934203.1:n.69+2083G>C
XM_017025232.1:c.472C>G	XP_016880721.1:p.Leu158Val
XM_024451007.1:c.472C>G	XP_024306775.1:p.Leu158Val
NM_001165967.2:c.367C>G MANE Select	NP_001159439.1:p.Leu123Val
NM_032580.4:c.352C>G	NP_115969.2:p.Leu118Val