Canonical Allele Identifier: CA8368617

Gene: HES7

Linked Data

• dbSNP Id: rs753173122
• ExAC: 17:8025052 C / G
• gnomAD v2: 17-8025052-C-G
• gnomAD v4: 17-8121734-C-G
• MyVariant Identifiers: chr17:g.8025052C>G (hg19) ; chr17:g.8121734C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121734C>G , CM000679.2:g.8121734C>G	GRCh38
NC_000017.10:g.8025052C>G , CM000679.1:g.8025052C>G	GRCh37
NC_000017.9:g.7965777C>G	NCBI36
NG_015807.1:g.2183G>C
NG_015816.1:g.7359G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.530G>C MANE Select	ENSP00000446205.2:p.Arg177Pro
ENST00000317814.8:c.515G>C	ENSP00000314774.4:p.Arg172Pro
ENST00000541682.6:c.530G>C	ENSP00000446205.2:p.Arg177Pro
NM_001165967.1:c.530G>C	NP_001159439.1:p.Arg177Pro
NM_032580.3:c.515G>C	NP_115969.2:p.Arg172Pro
XM_011524038.1:c.635G>C	XP_011522340.1:p.Arg212Pro
XM_011524039.1:c.626G>C	XP_011522341.1:p.Arg209Pro
XM_011524040.1:c.626G>C	XP_011522342.1:p.Arg209Pro
XM_011524041.1:c.617G>C	XP_011522343.1:p.Arg206Pro
XM_011524042.1:c.488G>C	XP_011522344.1:p.Arg163Pro
XR_934203.1:n.69+1920C>G
XM_017025232.1:c.635G>C	XP_016880721.1:p.Arg212Pro
XM_024451007.1:c.635G>C	XP_024306775.1:p.Arg212Pro
NM_001165967.2:c.530G>C MANE Select	NP_001159439.1:p.Arg177Pro
NM_032580.4:c.515G>C	NP_115969.2:p.Arg172Pro