Canonical Allele Identifier: CA624868637

Gene: HES7

Linked Data

• dbSNP Id: rs1276658634
• gnomAD v2: 17-8025401-C-G
• gnomAD v3: 17-8122083-C-G
• gnomAD v4: 17-8122083-C-G
• MyVariant Identifiers: chr17:g.8025401C>G (hg19) ; chr17:g.8122083C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122083C>G , CM000679.2:g.8122083C>G	GRCh38
NC_000017.10:g.8025401C>G , CM000679.1:g.8025401C>G	GRCh37
NC_000017.9:g.7966126C>G	NCBI36
NG_015807.1:g.1834G>C
NG_015816.1:g.7010G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.227-46G>C MANE Select	ENSP00000446205.2:n.227-46G>C
ENST00000317814.8:c.227-61G>C	ENSP00000314774.4:n.227-61G>C
ENST00000541682.6:c.227-46G>C	ENSP00000446205.2:n.227-46G>C
ENST00000577735.1:c.203-46G>C	ENSP00000462491.1:n.203-46G>C
NM_001165967.1:c.227-46G>C	NP_001159439.1:n.227-46G>C
NM_032580.3:c.227-61G>C	NP_115969.2:n.227-61G>C
XM_011524038.1:c.332-46G>C	XP_011522340.1:n.332-46G>C
XM_011524039.1:c.323-46G>C	XP_011522341.1:n.323-46G>C
XM_011524040.1:c.323-46G>C	XP_011522342.1:n.323-46G>C
XM_011524041.1:c.314-46G>C	XP_011522343.1:n.314-46G>C
XM_011524042.1:c.185-46G>C	XP_011522344.1:n.185-46G>C
XR_934203.1:n.69+2269C>G
XM_017025232.1:c.332-46G>C	XP_016880721.1:n.332-46G>C
XM_024451007.1:c.332-46G>C	XP_024306775.1:n.332-46G>C
NM_001165967.2:c.227-46G>C MANE Select	NP_001159439.1:n.227-46G>C
NM_032580.4:c.227-61G>C	NP_115969.2:n.227-61G>C