Canonical Allele Identifier: CA397986865

Gene: HES7

Linked Data

• ClinVar Variation Id: 1051206
• ClinVar RCV Id: RCV001359213
• dbSNP Id: rs896956362
• gnomAD v4: 17-8121582-G-C
• MyVariant Identifiers: chr17:g.8024900G>C (hg19) ; chr17:g.8121582G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121582G>C , CM000679.2:g.8121582G>C	GRCh38
NC_000017.10:g.8024900G>C , CM000679.1:g.8024900G>C	GRCh37
NC_000017.9:g.7965625G>C	NCBI36
NG_015807.1:g.2335C>G
NG_015816.1:g.7511C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.682C>G MANE Select	ENSP00000446205.2:p.Pro228Ala
ENST00000317814.8:c.667C>G	ENSP00000314774.4:p.Pro223Ala
ENST00000541682.6:c.682C>G	ENSP00000446205.2:p.Pro228Ala
NM_001165967.1:c.682C>G	NP_001159439.1:p.Pro228Ala
NM_032580.3:c.667C>G	NP_115969.2:p.Pro223Ala
XM_011524038.1:c.787C>G	XP_011522340.1:p.Pro263Ala
XM_011524039.1:c.778C>G	XP_011522341.1:p.Pro260Ala
XM_011524040.1:c.778C>G	XP_011522342.1:p.Pro260Ala
XM_011524041.1:c.769C>G	XP_011522343.1:p.Pro257Ala
XM_011524042.1:c.640C>G	XP_011522344.1:p.Pro214Ala
XR_934203.1:n.69+1768G>C
XM_017025232.1:c.787C>G	XP_016880721.1:p.Pro263Ala
XM_024451007.1:c.787C>G	XP_024306775.1:p.Pro263Ala
NM_001165967.2:c.682C>G MANE Select	NP_001159439.1:p.Pro228Ala
NM_032580.4:c.667C>G	NP_115969.2:p.Pro223Ala