Canonical Allele Identifier: CA497760781

Gene: HES7

Linked Data

• gnomAD v4: 17-8121580-A-G
• MyVariant Identifiers: chr17:g.8024898A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121580A>G , CM000679.2:g.8121580A>G	GRCh38
NC_000017.10:g.8024898A>G , CM000679.1:g.8024898A>G	GRCh37
NC_000017.9:g.7965623A>G	NCBI36
NG_015807.1:g.2337T>C
NG_015816.1:g.7513T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.684T>C MANE Select	ENSP00000446205.2:p.Pro228=
ENST00000317814.8:c.669T>C	ENSP00000314774.4:p.Pro223=
ENST00000541682.6:c.684T>C	ENSP00000446205.2:p.Pro228=
NM_001165967.1:c.684T>C	NP_001159439.1:p.Pro228=
NM_032580.3:c.669T>C	NP_115969.2:p.Pro223=
XM_011524038.1:c.789T>C	XP_011522340.1:p.Pro263=
XM_011524039.1:c.780T>C	XP_011522341.1:p.Pro260=
XM_011524040.1:c.780T>C	XP_011522342.1:p.Pro260=
XM_011524041.1:c.771T>C	XP_011522343.1:p.Pro257=
XM_011524042.1:c.642T>C	XP_011522344.1:p.Pro214=
XR_934203.1:n.69+1766A>G
XM_017025232.1:c.789T>C	XP_016880721.1:p.Pro263=
XM_024451007.1:c.789T>C	XP_024306775.1:p.Pro263=
NM_001165967.2:c.684T>C MANE Select	NP_001159439.1:p.Pro228=
NM_032580.4:c.669T>C	NP_115969.2:p.Pro223=