Canonical Allele Identifier: CA397987290

Gene: HES7

Linked Data

• dbSNP Id: rs2151853355
• gnomAD v3: 17-8121665-C-G
• gnomAD v4: 17-8121665-C-G
• MyVariant Identifiers: chr17:g.8024983C>G (hg19) ; chr17:g.8121665C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121665C>G , CM000679.2:g.8121665C>G	GRCh38
NC_000017.10:g.8024983C>G , CM000679.1:g.8024983C>G	GRCh37
NC_000017.9:g.7965708C>G	NCBI36
NG_015807.1:g.2252G>C
NG_015816.1:g.7428G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.599G>C MANE Select	ENSP00000446205.2:p.Gly200Ala
ENST00000317814.8:c.584G>C	ENSP00000314774.4:p.Gly195Ala
ENST00000541682.6:c.599G>C	ENSP00000446205.2:p.Gly200Ala
NM_001165967.1:c.599G>C	NP_001159439.1:p.Gly200Ala
NM_032580.3:c.584G>C	NP_115969.2:p.Gly195Ala
XM_011524038.1:c.704G>C	XP_011522340.1:p.Gly235Ala
XM_011524039.1:c.695G>C	XP_011522341.1:p.Gly232Ala
XM_011524040.1:c.695G>C	XP_011522342.1:p.Gly232Ala
XM_011524041.1:c.686G>C	XP_011522343.1:p.Gly229Ala
XM_011524042.1:c.557G>C	XP_011522344.1:p.Gly186Ala
XR_934203.1:n.69+1851C>G
XM_017025232.1:c.704G>C	XP_016880721.1:p.Gly235Ala
XM_024451007.1:c.704G>C	XP_024306775.1:p.Gly235Ala
NM_001165967.2:c.599G>C MANE Select	NP_001159439.1:p.Gly200Ala
NM_032580.4:c.584G>C	NP_115969.2:p.Gly195Ala