Canonical Allele Identifier: CA497760805

Gene: HES7

Linked Data

• dbSNP Id: rs1339326556
• gnomAD v2: 17-8024928-C-T
• gnomAD v3: 17-8121610-C-T
• gnomAD v4: 17-8121610-C-T
• MyVariant Identifiers: chr17:g.8024928C>T (hg19) ; chr17:g.8121610C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121610C>T , CM000679.2:g.8121610C>T	GRCh38
NC_000017.10:g.8024928C>T , CM000679.1:g.8024928C>T	GRCh37
NC_000017.9:g.7965653C>T	NCBI36
NG_015807.1:g.2307G>A
NG_015816.1:g.7483G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.654G>A MANE Select	ENSP00000446205.2:p.Pro218=
ENST00000317814.8:c.639G>A	ENSP00000314774.4:p.Pro213=
ENST00000541682.6:c.654G>A	ENSP00000446205.2:p.Pro218=
NM_001165967.1:c.654G>A	NP_001159439.1:p.Pro218=
NM_032580.3:c.639G>A	NP_115969.2:p.Pro213=
XM_011524038.1:c.759G>A	XP_011522340.1:p.Pro253=
XM_011524039.1:c.750G>A	XP_011522341.1:p.Pro250=
XM_011524040.1:c.750G>A	XP_011522342.1:p.Pro250=
XM_011524041.1:c.741G>A	XP_011522343.1:p.Pro247=
XM_011524042.1:c.612G>A	XP_011522344.1:p.Pro204=
XR_934203.1:n.69+1796C>T
XM_017025232.1:c.759G>A	XP_016880721.1:p.Pro253=
XM_024451007.1:c.759G>A	XP_024306775.1:p.Pro253=
NM_001165967.2:c.654G>A MANE Select	NP_001159439.1:p.Pro218=
NM_032580.4:c.639G>A	NP_115969.2:p.Pro213=