Canonical Allele Identifier: CA397988793

Gene: HES7

Linked Data

• MyVariant Identifiers: chr17:g.8025289A>C (hg19) ; chr17:g.8121971A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121971A>C , CM000679.2:g.8121971A>C	GRCh38
NC_000017.10:g.8025289A>C , CM000679.1:g.8025289A>C	GRCh37
NC_000017.9:g.7966014A>C	NCBI36
NG_015807.1:g.1946T>G
NG_015816.1:g.7122T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.293T>G MANE Select	ENSP00000446205.2:p.Leu98Trp
ENST00000317814.8:c.278T>G	ENSP00000314774.4:p.Leu93Trp
ENST00000541682.6:c.293T>G	ENSP00000446205.2:p.Leu98Trp
ENST00000577735.1:c.269T>G	ENSP00000462491.1:p.Leu90Trp
NM_001165967.1:c.293T>G	NP_001159439.1:p.Leu98Trp
NM_032580.3:c.278T>G	NP_115969.2:p.Leu93Trp
XM_011524038.1:c.398T>G	XP_011522340.1:p.Leu133Trp
XM_011524039.1:c.389T>G	XP_011522341.1:p.Leu130Trp
XM_011524040.1:c.389T>G	XP_011522342.1:p.Leu130Trp
XM_011524041.1:c.380T>G	XP_011522343.1:p.Leu127Trp
XM_011524042.1:c.251T>G	XP_011522344.1:p.Leu84Trp
XR_934203.1:n.69+2157A>C
XM_017025232.1:c.398T>G	XP_016880721.1:p.Leu133Trp
XM_024451007.1:c.398T>G	XP_024306775.1:p.Leu133Trp
NM_001165967.2:c.293T>G MANE Select	NP_001159439.1:p.Leu98Trp
NM_032580.4:c.278T>G	NP_115969.2:p.Leu93Trp