Canonical Allele Identifier: CA497760814

Gene: HES7

Linked Data

• gnomAD v4: 17-8121622-C-T
• MyVariant Identifiers: chr17:g.8024940C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121622C>T , CM000679.2:g.8121622C>T	GRCh38
NC_000017.10:g.8024940C>T , CM000679.1:g.8024940C>T	GRCh37
NC_000017.9:g.7965665C>T	NCBI36
NG_015807.1:g.2295G>A
NG_015816.1:g.7471G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.642G>A MANE Select	ENSP00000446205.2:p.Ala214=
ENST00000317814.8:c.627G>A	ENSP00000314774.4:p.Ala209=
ENST00000541682.6:c.642G>A	ENSP00000446205.2:p.Ala214=
NM_001165967.1:c.642G>A	NP_001159439.1:p.Ala214=
NM_032580.3:c.627G>A	NP_115969.2:p.Ala209=
XM_011524038.1:c.747G>A	XP_011522340.1:p.Ala249=
XM_011524039.1:c.738G>A	XP_011522341.1:p.Ala246=
XM_011524040.1:c.738G>A	XP_011522342.1:p.Ala246=
XM_011524041.1:c.729G>A	XP_011522343.1:p.Ala243=
XM_011524042.1:c.600G>A	XP_011522344.1:p.Ala200=
XR_934203.1:n.69+1808C>T
XM_017025232.1:c.747G>A	XP_016880721.1:p.Ala249=
XM_024451007.1:c.747G>A	XP_024306775.1:p.Ala249=
NM_001165967.2:c.642G>A MANE Select	NP_001159439.1:p.Ala214=
NM_032580.4:c.627G>A	NP_115969.2:p.Ala209=