Canonical Allele Identifier: CA8368650

Gene: HES7

Linked Data

• dbSNP Id: rs772931911
• ExAC: 17:8025197 C / G
• gnomAD v2: 17-8025197-C-G
• gnomAD v4: 17-8121879-C-G
• MyVariant Identifiers: chr17:g.8025197C>G (hg19) ; chr17:g.8121879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121879C>G , CM000679.2:g.8121879C>G	GRCh38
NC_000017.10:g.8025197C>G , CM000679.1:g.8025197C>G	GRCh37
NC_000017.9:g.7965922C>G	NCBI36
NG_015807.1:g.2038G>C
NG_015816.1:g.7214G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.385G>C MANE Select	ENSP00000446205.2:p.Gly129Arg
ENST00000317814.8:c.370G>C	ENSP00000314774.4:p.Gly124Arg
ENST00000541682.6:c.385G>C	ENSP00000446205.2:p.Gly129Arg
ENST00000577735.1:c.361G>C	ENSP00000462491.1:p.Gly121Arg
NM_001165967.1:c.385G>C	NP_001159439.1:p.Gly129Arg
NM_032580.3:c.370G>C	NP_115969.2:p.Gly124Arg
XM_011524038.1:c.490G>C	XP_011522340.1:p.Gly164Arg
XM_011524039.1:c.481G>C	XP_011522341.1:p.Gly161Arg
XM_011524040.1:c.481G>C	XP_011522342.1:p.Gly161Arg
XM_011524041.1:c.472G>C	XP_011522343.1:p.Gly158Arg
XM_011524042.1:c.343G>C	XP_011522344.1:p.Gly115Arg
XR_934203.1:n.69+2065C>G
XM_017025232.1:c.490G>C	XP_016880721.1:p.Gly164Arg
XM_024451007.1:c.490G>C	XP_024306775.1:p.Gly164Arg
NM_001165967.2:c.385G>C MANE Select	NP_001159439.1:p.Gly129Arg
NM_032580.4:c.370G>C	NP_115969.2:p.Gly124Arg