Canonical Allele Identifier: CA397987370

Gene: HES7

Linked Data

• gnomAD v4: 17-8121683-G-T
• MyVariant Identifiers: chr17:g.8025001G>T (hg19) ; chr17:g.8121683G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121683G>T , CM000679.2:g.8121683G>T	GRCh38
NC_000017.10:g.8025001G>T , CM000679.1:g.8025001G>T	GRCh37
NC_000017.9:g.7965726G>T	NCBI36
NG_015807.1:g.2234C>A
NG_015816.1:g.7410C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.581C>A MANE Select	ENSP00000446205.2:p.Ala194Glu
ENST00000317814.8:c.566C>A	ENSP00000314774.4:p.Ala189Glu
ENST00000541682.6:c.581C>A	ENSP00000446205.2:p.Ala194Glu
NM_001165967.1:c.581C>A	NP_001159439.1:p.Ala194Glu
NM_032580.3:c.566C>A	NP_115969.2:p.Ala189Glu
XM_011524038.1:c.686C>A	XP_011522340.1:p.Ala229Glu
XM_011524039.1:c.677C>A	XP_011522341.1:p.Ala226Glu
XM_011524040.1:c.677C>A	XP_011522342.1:p.Ala226Glu
XM_011524041.1:c.668C>A	XP_011522343.1:p.Ala223Glu
XM_011524042.1:c.539C>A	XP_011522344.1:p.Ala180Glu
XR_934203.1:n.69+1869G>T
XM_017025232.1:c.686C>A	XP_016880721.1:p.Ala229Glu
XM_024451007.1:c.686C>A	XP_024306775.1:p.Ala229Glu
NM_001165967.2:c.581C>A MANE Select	NP_001159439.1:p.Ala194Glu
NM_032580.4:c.566C>A	NP_115969.2:p.Ala189Glu