Canonical Allele Identifier: CA397986945

Gene: HES7

Linked Data

• dbSNP Id: rs1981323942
• gnomAD v4: 17-8121597-G-A
• MyVariant Identifiers: chr17:g.8024915G>A (hg19) ; chr17:g.8121597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121597G>A , CM000679.2:g.8121597G>A	GRCh38
NC_000017.10:g.8024915G>A , CM000679.1:g.8024915G>A	GRCh37
NC_000017.9:g.7965640G>A	NCBI36
NG_015807.1:g.2320C>T
NG_015816.1:g.7496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.667C>T MANE Select	ENSP00000446205.2:p.Pro223Ser
ENST00000317814.8:c.652C>T	ENSP00000314774.4:p.Pro218Ser
ENST00000541682.6:c.667C>T	ENSP00000446205.2:p.Pro223Ser
NM_001165967.1:c.667C>T	NP_001159439.1:p.Pro223Ser
NM_032580.3:c.652C>T	NP_115969.2:p.Pro218Ser
XM_011524038.1:c.772C>T	XP_011522340.1:p.Pro258Ser
XM_011524039.1:c.763C>T	XP_011522341.1:p.Pro255Ser
XM_011524040.1:c.763C>T	XP_011522342.1:p.Pro255Ser
XM_011524041.1:c.754C>T	XP_011522343.1:p.Pro252Ser
XM_011524042.1:c.625C>T	XP_011522344.1:p.Pro209Ser
XR_934203.1:n.69+1783G>A
XM_017025232.1:c.772C>T	XP_016880721.1:p.Pro258Ser
XM_024451007.1:c.772C>T	XP_024306775.1:p.Pro258Ser
NM_001165967.2:c.667C>T MANE Select	NP_001159439.1:p.Pro223Ser
NM_032580.4:c.652C>T	NP_115969.2:p.Pro218Ser