Canonical Allele Identifier: CA397988639

Gene: HES7

Linked Data

• MyVariant Identifiers: chr17:g.8025258C>G (hg19) ; chr17:g.8121940C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121940C>G , CM000679.2:g.8121940C>G	GRCh38
NC_000017.10:g.8025258C>G , CM000679.1:g.8025258C>G	GRCh37
NC_000017.9:g.7965983C>G	NCBI36
NG_015807.1:g.1977G>C
NG_015816.1:g.7153G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.324G>C MANE Select	ENSP00000446205.2:p.Leu108Phe
ENST00000317814.8:c.309G>C	ENSP00000314774.4:p.Leu103Phe
ENST00000541682.6:c.324G>C	ENSP00000446205.2:p.Leu108Phe
ENST00000577735.1:c.300G>C	ENSP00000462491.1:p.Leu100Phe
NM_001165967.1:c.324G>C	NP_001159439.1:p.Leu108Phe
NM_032580.3:c.309G>C	NP_115969.2:p.Leu103Phe
XM_011524038.1:c.429G>C	XP_011522340.1:p.Leu143Phe
XM_011524039.1:c.420G>C	XP_011522341.1:p.Leu140Phe
XM_011524040.1:c.420G>C	XP_011522342.1:p.Leu140Phe
XM_011524041.1:c.411G>C	XP_011522343.1:p.Leu137Phe
XM_011524042.1:c.282G>C	XP_011522344.1:p.Leu94Phe
XR_934203.1:n.69+2126C>G
XM_017025232.1:c.429G>C	XP_016880721.1:p.Leu143Phe
XM_024451007.1:c.429G>C	XP_024306775.1:p.Leu143Phe
NM_001165967.2:c.324G>C MANE Select	NP_001159439.1:p.Leu108Phe
NM_032580.4:c.309G>C	NP_115969.2:p.Leu103Phe