Canonical Allele Identifier: CA397988642

Gene: HES7

Linked Data

• MyVariant Identifiers: chr17:g.8025259A>C (hg19) ; chr17:g.8121941A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121941A>C , CM000679.2:g.8121941A>C	GRCh38
NC_000017.10:g.8025259A>C , CM000679.1:g.8025259A>C	GRCh37
NC_000017.9:g.7965984A>C	NCBI36
NG_015807.1:g.1976T>G
NG_015816.1:g.7152T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.323T>G MANE Select	ENSP00000446205.2:p.Leu108Trp
ENST00000317814.8:c.308T>G	ENSP00000314774.4:p.Leu103Trp
ENST00000541682.6:c.323T>G	ENSP00000446205.2:p.Leu108Trp
ENST00000577735.1:c.299T>G	ENSP00000462491.1:p.Leu100Trp
NM_001165967.1:c.323T>G	NP_001159439.1:p.Leu108Trp
NM_032580.3:c.308T>G	NP_115969.2:p.Leu103Trp
XM_011524038.1:c.428T>G	XP_011522340.1:p.Leu143Trp
XM_011524039.1:c.419T>G	XP_011522341.1:p.Leu140Trp
XM_011524040.1:c.419T>G	XP_011522342.1:p.Leu140Trp
XM_011524041.1:c.410T>G	XP_011522343.1:p.Leu137Trp
XM_011524042.1:c.281T>G	XP_011522344.1:p.Leu94Trp
XR_934203.1:n.69+2127A>C
XM_017025232.1:c.428T>G	XP_016880721.1:p.Leu143Trp
XM_024451007.1:c.428T>G	XP_024306775.1:p.Leu143Trp
NM_001165967.2:c.323T>G MANE Select	NP_001159439.1:p.Leu108Trp
NM_032580.4:c.308T>G	NP_115969.2:p.Leu103Trp