Canonical Allele Identifier: CA497760865

Gene: HES7

Linked Data

• dbSNP Id: rs1354663259
• gnomAD v2: 17-8025000-C-G
• gnomAD v4: 17-8121682-C-G
• MyVariant Identifiers: chr17:g.8025000C>G (hg19) ; chr17:g.8121682C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121682C>G , CM000679.2:g.8121682C>G	GRCh38
NC_000017.10:g.8025000C>G , CM000679.1:g.8025000C>G	GRCh37
NC_000017.9:g.7965725C>G	NCBI36
NG_015807.1:g.2235G>C
NG_015816.1:g.7411G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.582G>C MANE Select	ENSP00000446205.2:p.Ala194=
ENST00000317814.8:c.567G>C	ENSP00000314774.4:p.Ala189=
ENST00000541682.6:c.582G>C	ENSP00000446205.2:p.Ala194=
NM_001165967.1:c.582G>C	NP_001159439.1:p.Ala194=
NM_032580.3:c.567G>C	NP_115969.2:p.Ala189=
XM_011524038.1:c.687G>C	XP_011522340.1:p.Ala229=
XM_011524039.1:c.678G>C	XP_011522341.1:p.Ala226=
XM_011524040.1:c.678G>C	XP_011522342.1:p.Ala226=
XM_011524041.1:c.669G>C	XP_011522343.1:p.Ala223=
XM_011524042.1:c.540G>C	XP_011522344.1:p.Ala180=
XR_934203.1:n.69+1868C>G
XM_017025232.1:c.687G>C	XP_016880721.1:p.Ala229=
XM_024451007.1:c.687G>C	XP_024306775.1:p.Ala229=
NM_001165967.2:c.582G>C MANE Select	NP_001159439.1:p.Ala194=
NM_032580.4:c.567G>C	NP_115969.2:p.Ala189=