Canonical Allele Identifier: CA397987780

Gene: HES7

Linked Data

• dbSNP Id: rs1981341002
• gnomAD v3: 17-8121751-C-G
• gnomAD v4: 17-8121751-C-G
• MyVariant Identifiers: chr17:g.8025069C>G (hg19) ; chr17:g.8121751C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121751C>G , CM000679.2:g.8121751C>G	GRCh38
NC_000017.10:g.8025069C>G , CM000679.1:g.8025069C>G	GRCh37
NC_000017.9:g.7965794C>G	NCBI36
NG_015807.1:g.2166G>C
NG_015816.1:g.7342G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.513G>C MANE Select	ENSP00000446205.2:p.Gln171His
ENST00000317814.8:c.498G>C	ENSP00000314774.4:p.Gln166His
ENST00000541682.6:c.513G>C	ENSP00000446205.2:p.Gln171His
NM_001165967.1:c.513G>C	NP_001159439.1:p.Gln171His
NM_032580.3:c.498G>C	NP_115969.2:p.Gln166His
XM_011524038.1:c.618G>C	XP_011522340.1:p.Gln206His
XM_011524039.1:c.609G>C	XP_011522341.1:p.Gln203His
XM_011524040.1:c.609G>C	XP_011522342.1:p.Gln203His
XM_011524041.1:c.600G>C	XP_011522343.1:p.Gln200His
XM_011524042.1:c.471G>C	XP_011522344.1:p.Gln157His
XR_934203.1:n.69+1937C>G
XM_017025232.1:c.618G>C	XP_016880721.1:p.Gln206His
XM_024451007.1:c.618G>C	XP_024306775.1:p.Gln206His
NM_001165967.2:c.513G>C MANE Select	NP_001159439.1:p.Gln171His
NM_032580.4:c.498G>C	NP_115969.2:p.Gln166His