Canonical Allele Identifier: CA397987571

Gene: HES7

Linked Data

• ClinVar Variation Id: 1518644
• ClinVar RCV Id: RCV002043520
• dbSNP Id: rs2151853397
• gnomAD v4: 17-8121713-A-G
• MyVariant Identifiers: chr17:g.8025031A>G (hg19) ; chr17:g.8121713A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121713A>G , CM000679.2:g.8121713A>G	GRCh38
NC_000017.10:g.8025031A>G , CM000679.1:g.8025031A>G	GRCh37
NC_000017.9:g.7965756A>G	NCBI36
NG_015807.1:g.2204T>C
NG_015816.1:g.7380T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.551T>C MANE Select	ENSP00000446205.2:p.Leu184Pro
ENST00000317814.8:c.536T>C	ENSP00000314774.4:p.Leu179Pro
ENST00000541682.6:c.551T>C	ENSP00000446205.2:p.Leu184Pro
NM_001165967.1:c.551T>C	NP_001159439.1:p.Leu184Pro
NM_032580.3:c.536T>C	NP_115969.2:p.Leu179Pro
XM_011524038.1:c.656T>C	XP_011522340.1:p.Leu219Pro
XM_011524039.1:c.647T>C	XP_011522341.1:p.Leu216Pro
XM_011524040.1:c.647T>C	XP_011522342.1:p.Leu216Pro
XM_011524041.1:c.638T>C	XP_011522343.1:p.Leu213Pro
XM_011524042.1:c.509T>C	XP_011522344.1:p.Leu170Pro
XR_934203.1:n.69+1899A>G
XM_017025232.1:c.656T>C	XP_016880721.1:p.Leu219Pro
XM_024451007.1:c.656T>C	XP_024306775.1:p.Leu219Pro
NM_001165967.2:c.551T>C MANE Select	NP_001159439.1:p.Leu184Pro
NM_032580.4:c.536T>C	NP_115969.2:p.Leu179Pro