Canonical Allele Identifier: CA397988689

Gene: HES7

Linked Data

• dbSNP Id: rs1225409421
• gnomAD v4: 17-8121952-G-T
• MyVariant Identifiers: chr17:g.8025270G>T (hg19) ; chr17:g.8121952G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121952G>T , CM000679.2:g.8121952G>T	GRCh38
NC_000017.10:g.8025270G>T , CM000679.1:g.8025270G>T	GRCh37
NC_000017.9:g.7965995G>T	NCBI36
NG_015807.1:g.1965C>A
NG_015816.1:g.7141C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.312C>A MANE Select	ENSP00000446205.2:p.Cys104Ter
ENST00000317814.8:c.297C>A	ENSP00000314774.4:p.Cys99Ter
ENST00000541682.6:c.312C>A	ENSP00000446205.2:p.Cys104Ter
ENST00000577735.1:c.288C>A	ENSP00000462491.1:p.Cys96Ter
NM_001165967.1:c.312C>A	NP_001159439.1:p.Cys104Ter
NM_032580.3:c.297C>A	NP_115969.2:p.Cys99Ter
XM_011524038.1:c.417C>A	XP_011522340.1:p.Cys139Ter
XM_011524039.1:c.408C>A	XP_011522341.1:p.Cys136Ter
XM_011524040.1:c.408C>A	XP_011522342.1:p.Cys136Ter
XM_011524041.1:c.399C>A	XP_011522343.1:p.Cys133Ter
XM_011524042.1:c.270C>A	XP_011522344.1:p.Cys90Ter
XR_934203.1:n.69+2138G>T
XM_017025232.1:c.417C>A	XP_016880721.1:p.Cys139Ter
XM_024451007.1:c.417C>A	XP_024306775.1:p.Cys139Ter
NM_001165967.2:c.312C>A MANE Select	NP_001159439.1:p.Cys104Ter
NM_032580.4:c.297C>A	NP_115969.2:p.Cys99Ter