Canonical Allele Identifier: CA397987045

Gene: HES7

Linked Data

• MyVariant Identifiers: chr17:g.8024936T>G (hg19) ; chr17:g.8121618T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121618T>G , CM000679.2:g.8121618T>G	GRCh38
NC_000017.10:g.8024936T>G , CM000679.1:g.8024936T>G	GRCh37
NC_000017.9:g.7965661T>G	NCBI36
NG_015807.1:g.2299A>C
NG_015816.1:g.7475A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.646A>C MANE Select	ENSP00000446205.2:p.Lys216Gln
ENST00000317814.8:c.631A>C	ENSP00000314774.4:p.Lys211Gln
ENST00000541682.6:c.646A>C	ENSP00000446205.2:p.Lys216Gln
NM_001165967.1:c.646A>C	NP_001159439.1:p.Lys216Gln
NM_032580.3:c.631A>C	NP_115969.2:p.Lys211Gln
XM_011524038.1:c.751A>C	XP_011522340.1:p.Lys251Gln
XM_011524039.1:c.742A>C	XP_011522341.1:p.Lys248Gln
XM_011524040.1:c.742A>C	XP_011522342.1:p.Lys248Gln
XM_011524041.1:c.733A>C	XP_011522343.1:p.Lys245Gln
XM_011524042.1:c.604A>C	XP_011522344.1:p.Lys202Gln
XR_934203.1:n.69+1804T>G
XM_017025232.1:c.751A>C	XP_016880721.1:p.Lys251Gln
XM_024451007.1:c.751A>C	XP_024306775.1:p.Lys251Gln
NM_001165967.2:c.646A>C MANE Select	NP_001159439.1:p.Lys216Gln
NM_032580.4:c.631A>C	NP_115969.2:p.Lys211Gln