Canonical Allele Identifier: CA497955330

Gene: HES7

Linked Data

• gnomAD v4: 17-8121841-T-C
• MyVariant Identifiers: chr17:g.8025159T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121841T>C , CM000679.2:g.8121841T>C	GRCh38
NC_000017.10:g.8025159T>C , CM000679.1:g.8025159T>C	GRCh37
NC_000017.9:g.7965884T>C	NCBI36
NG_015807.1:g.2076A>G
NG_015816.1:g.7252A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.423A>G MANE Select	ENSP00000446205.2:p.Val141=
ENST00000317814.8:c.408A>G	ENSP00000314774.4:p.Val136=
ENST00000541682.6:c.423A>G	ENSP00000446205.2:p.Val141=
ENST00000577735.1:c.399A>G	ENSP00000462491.1:p.Val133=
NM_001165967.1:c.423A>G	NP_001159439.1:p.Val141=
NM_032580.3:c.408A>G	NP_115969.2:p.Val136=
XM_011524038.1:c.528A>G	XP_011522340.1:p.Val176=
XM_011524039.1:c.519A>G	XP_011522341.1:p.Val173=
XM_011524040.1:c.519A>G	XP_011522342.1:p.Val173=
XM_011524041.1:c.510A>G	XP_011522343.1:p.Val170=
XM_011524042.1:c.381A>G	XP_011522344.1:p.Val127=
XR_934203.1:n.69+2027T>C
XM_017025232.1:c.528A>G	XP_016880721.1:p.Val176=
XM_024451007.1:c.528A>G	XP_024306775.1:p.Val176=
NM_001165967.2:c.423A>G MANE Select	NP_001159439.1:p.Val141=
NM_032580.4:c.408A>G	NP_115969.2:p.Val136=