Canonical Allele Identifier: CA497955012

Gene: HES7

Linked Data

• dbSNP Id: rs929981617
• gnomAD v2: 17-8025015-G-T
• gnomAD v4: 17-8121697-G-T
• MyVariant Identifiers: chr17:g.8025015G>T (hg19) ; chr17:g.8121697G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121697G>T , CM000679.2:g.8121697G>T	GRCh38
NC_000017.10:g.8025015G>T , CM000679.1:g.8025015G>T	GRCh37
NC_000017.9:g.7965740G>T	NCBI36
NG_015807.1:g.2220C>A
NG_015816.1:g.7396C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.567C>A MANE Select	ENSP00000446205.2:p.Ala189=
ENST00000317814.8:c.552C>A	ENSP00000314774.4:p.Ala184=
ENST00000541682.6:c.567C>A	ENSP00000446205.2:p.Ala189=
NM_001165967.1:c.567C>A	NP_001159439.1:p.Ala189=
NM_032580.3:c.552C>A	NP_115969.2:p.Ala184=
XM_011524038.1:c.672C>A	XP_011522340.1:p.Ala224=
XM_011524039.1:c.663C>A	XP_011522341.1:p.Ala221=
XM_011524040.1:c.663C>A	XP_011522342.1:p.Ala221=
XM_011524041.1:c.654C>A	XP_011522343.1:p.Ala218=
XM_011524042.1:c.525C>A	XP_011522344.1:p.Ala175=
XR_934203.1:n.69+1883G>T
XM_017025232.1:c.672C>A	XP_016880721.1:p.Ala224=
XM_024451007.1:c.672C>A	XP_024306775.1:p.Ala224=
NM_001165967.2:c.567C>A MANE Select	NP_001159439.1:p.Ala189=
NM_032580.4:c.552C>A	NP_115969.2:p.Ala184=