Canonical Allele Identifier: CA287537334

Gene: HES7

Linked Data

• dbSNP Id: rs1054365117
• gnomAD v2: 17-8025285-G-C
• gnomAD v3: 17-8121967-G-C
• gnomAD v4: 17-8121967-G-C
• MyVariant Identifiers: chr17:g.8025285G>C (hg19) ; chr17:g.8121967G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121967G>C , CM000679.2:g.8121967G>C	GRCh38
NC_000017.10:g.8025285G>C , CM000679.1:g.8025285G>C	GRCh37
NC_000017.9:g.7966010G>C	NCBI36
NG_015807.1:g.1950C>G
NG_015816.1:g.7126C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.297C>G MANE Select	ENSP00000446205.2:p.Ser99=
ENST00000317814.8:c.282C>G	ENSP00000314774.4:p.Ser94=
ENST00000541682.6:c.297C>G	ENSP00000446205.2:p.Ser99=
ENST00000577735.1:c.273C>G	ENSP00000462491.1:p.Ser91=
NM_001165967.1:c.297C>G	NP_001159439.1:p.Ser99=
NM_032580.3:c.282C>G	NP_115969.2:p.Ser94=
XM_011524038.1:c.402C>G	XP_011522340.1:p.Ser134=
XM_011524039.1:c.393C>G	XP_011522341.1:p.Ser131=
XM_011524040.1:c.393C>G	XP_011522342.1:p.Ser131=
XM_011524041.1:c.384C>G	XP_011522343.1:p.Ser128=
XM_011524042.1:c.255C>G	XP_011522344.1:p.Ser85=
XR_934203.1:n.69+2153G>C
XM_017025232.1:c.402C>G	XP_016880721.1:p.Ser134=
XM_024451007.1:c.402C>G	XP_024306775.1:p.Ser134=
NM_001165967.2:c.297C>G MANE Select	NP_001159439.1:p.Ser99=
NM_032580.4:c.282C>G	NP_115969.2:p.Ser94=