Canonical Allele Identifier: CA497955439

Gene: HES7

Linked Data

• ClinVar Variation Id: 2894310
• ClinVar RCV Id: RCV003725758
• dbSNP Id: rs1240933866
• gnomAD v2: 17-8025195-G-A
• gnomAD v3: 17-8121877-G-A
• gnomAD v4: 17-8121877-G-A
• MyVariant Identifiers: chr17:g.8025195G>A (hg19) ; chr17:g.8121877G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121877G>A , CM000679.2:g.8121877G>A	GRCh38
NC_000017.10:g.8025195G>A , CM000679.1:g.8025195G>A	GRCh37
NC_000017.9:g.7965920G>A	NCBI36
NG_015807.1:g.2040C>T
NG_015816.1:g.7216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.387C>T MANE Select	ENSP00000446205.2:p.Gly129=
ENST00000317814.8:c.372C>T	ENSP00000314774.4:p.Gly124=
ENST00000541682.6:c.387C>T	ENSP00000446205.2:p.Gly129=
ENST00000577735.1:c.363C>T	ENSP00000462491.1:p.Gly121=
NM_001165967.1:c.387C>T	NP_001159439.1:p.Gly129=
NM_032580.3:c.372C>T	NP_115969.2:p.Gly124=
XM_011524038.1:c.492C>T	XP_011522340.1:p.Gly164=
XM_011524039.1:c.483C>T	XP_011522341.1:p.Gly161=
XM_011524040.1:c.483C>T	XP_011522342.1:p.Gly161=
XM_011524041.1:c.474C>T	XP_011522343.1:p.Gly158=
XM_011524042.1:c.345C>T	XP_011522344.1:p.Gly115=
XR_934203.1:n.69+2063G>A
XM_017025232.1:c.492C>T	XP_016880721.1:p.Gly164=
XM_024451007.1:c.492C>T	XP_024306775.1:p.Gly164=
NM_001165967.2:c.387C>T MANE Select	NP_001159439.1:p.Gly129=
NM_032580.4:c.372C>T	NP_115969.2:p.Gly124=