Canonical Allele Identifier: CA397987139

Gene: HES7

Linked Data

• gnomAD v4: 17-8121635-C-A
• MyVariant Identifiers: chr17:g.8024953C>A (hg19) ; chr17:g.8121635C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121635C>A , CM000679.2:g.8121635C>A	GRCh38
NC_000017.10:g.8024953C>A , CM000679.1:g.8024953C>A	GRCh37
NC_000017.9:g.7965678C>A	NCBI36
NG_015807.1:g.2282G>T
NG_015816.1:g.7458G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.629G>T MANE Select	ENSP00000446205.2:p.Arg210Ile
ENST00000317814.8:c.614G>T	ENSP00000314774.4:p.Arg205Ile
ENST00000541682.6:c.629G>T	ENSP00000446205.2:p.Arg210Ile
NM_001165967.1:c.629G>T	NP_001159439.1:p.Arg210Ile
NM_032580.3:c.614G>T	NP_115969.2:p.Arg205Ile
XM_011524038.1:c.734G>T	XP_011522340.1:p.Arg245Ile
XM_011524039.1:c.725G>T	XP_011522341.1:p.Arg242Ile
XM_011524040.1:c.725G>T	XP_011522342.1:p.Arg242Ile
XM_011524041.1:c.716G>T	XP_011522343.1:p.Arg239Ile
XM_011524042.1:c.587G>T	XP_011522344.1:p.Arg196Ile
XR_934203.1:n.69+1821C>A
XM_017025232.1:c.734G>T	XP_016880721.1:p.Arg245Ile
XM_024451007.1:c.734G>T	XP_024306775.1:p.Arg245Ile
NM_001165967.2:c.629G>T MANE Select	NP_001159439.1:p.Arg210Ile
NM_032580.4:c.614G>T	NP_115969.2:p.Arg205Ile