Canonical Allele Identifier: CA497955464

Gene: HES7

Linked Data

• dbSNP Id: rs1407969021
• gnomAD v2: 17-8025348-C-A
• gnomAD v4: 17-8122030-C-A
• MyVariant Identifiers: chr17:g.8025348C>A (hg19) ; chr17:g.8122030C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122030C>A , CM000679.2:g.8122030C>A	GRCh38
NC_000017.10:g.8025348C>A , CM000679.1:g.8025348C>A	GRCh37
NC_000017.9:g.7966073C>A	NCBI36
NG_015807.1:g.1887G>T
NG_015816.1:g.7063G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.234G>T MANE Select	ENSP00000446205.2:p.Ala78=
ENST00000317814.8:c.227-8G>T	ENSP00000314774.4:n.227-8G>T
ENST00000541682.6:c.234G>T	ENSP00000446205.2:p.Ala78=
ENST00000577735.1:c.210G>T	ENSP00000462491.1:p.Ala70=
NM_001165967.1:c.234G>T	NP_001159439.1:p.Ala78=
NM_032580.3:c.227-8G>T	NP_115969.2:n.227-8G>T
XM_011524038.1:c.339G>T	XP_011522340.1:p.Ala113=
XM_011524039.1:c.330G>T	XP_011522341.1:p.Ala110=
XM_011524040.1:c.330G>T	XP_011522342.1:p.Ala110=
XM_011524041.1:c.321G>T	XP_011522343.1:p.Ala107=
XM_011524042.1:c.192G>T	XP_011522344.1:p.Ala64=
XR_934203.1:n.69+2216C>A
XM_017025232.1:c.339G>T	XP_016880721.1:p.Ala113=
XM_024451007.1:c.339G>T	XP_024306775.1:p.Ala113=
NM_001165967.2:c.234G>T MANE Select	NP_001159439.1:p.Ala78=
NM_032580.4:c.227-8G>T	NP_115969.2:n.227-8G>T