Canonical Allele Identifier: CA397988869

Gene: HES7

Linked Data

• MyVariant Identifiers: chr17:g.8025304A>C (hg19) ; chr17:g.8121986A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121986A>C , CM000679.2:g.8121986A>C	GRCh38
NC_000017.10:g.8025304A>C , CM000679.1:g.8025304A>C	GRCh37
NC_000017.9:g.7966029A>C	NCBI36
NG_015807.1:g.1931T>G
NG_015816.1:g.7107T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.278T>G MANE Select	ENSP00000446205.2:p.Leu93Arg
ENST00000317814.8:c.263T>G	ENSP00000314774.4:p.Leu88Arg
ENST00000541682.6:c.278T>G	ENSP00000446205.2:p.Leu93Arg
ENST00000577735.1:c.254T>G	ENSP00000462491.1:p.Leu85Arg
NM_001165967.1:c.278T>G	NP_001159439.1:p.Leu93Arg
NM_032580.3:c.263T>G	NP_115969.2:p.Leu88Arg
XM_011524038.1:c.383T>G	XP_011522340.1:p.Leu128Arg
XM_011524039.1:c.374T>G	XP_011522341.1:p.Leu125Arg
XM_011524040.1:c.374T>G	XP_011522342.1:p.Leu125Arg
XM_011524041.1:c.365T>G	XP_011522343.1:p.Leu122Arg
XM_011524042.1:c.236T>G	XP_011522344.1:p.Leu79Arg
XR_934203.1:n.69+2172A>C
XM_017025232.1:c.383T>G	XP_016880721.1:p.Leu128Arg
XM_024451007.1:c.383T>G	XP_024306775.1:p.Leu128Arg
NM_001165967.2:c.278T>G MANE Select	NP_001159439.1:p.Leu93Arg
NM_032580.4:c.263T>G	NP_115969.2:p.Leu88Arg