Canonical Allele Identifier: CA287536894

Gene: HES7

Linked Data

• dbSNP Id: rs978268609
• gnomAD v3: 17-8121563-C-A
• gnomAD v4: 17-8121563-C-A
• MyVariant Identifiers: chr17:g.8024881C>A (hg19) ; chr17:g.8121563C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121563C>A , CM000679.2:g.8121563C>A	GRCh38
NC_000017.10:g.8024881C>A , CM000679.1:g.8024881C>A	GRCh37
NC_000017.9:g.7965606C>A	NCBI36
NG_015807.1:g.2354G>T
NG_015816.1:g.7530G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.*8G>T MANE Select	ENSP00000446205.2:n.*8G>T
ENST00000541682.6:c.701G>T	ENSP00000446205.2:n.701G>T
NM_001165967.1:c.*8G>T	NP_001159439.1:n.*8G>T
NM_032580.3:c.*8G>T	NP_115969.2:n.*8G>T
XM_011524038.1:c.*8G>T	XP_011522340.1:n.*8G>T
XM_011524039.1:c.*8G>T	XP_011522341.1:n.*8G>T
XM_011524040.1:c.*8G>T	XP_011522342.1:n.*8G>T
XM_011524041.1:c.*8G>T	XP_011522343.1:n.*8G>T
XM_011524042.1:c.*8G>T	XP_011522344.1:n.*8G>T
XR_934203.1:n.69+1749C>A
XM_017025232.1:c.*8G>T	XP_016880721.1:n.*8G>T
XM_024451007.1:c.*8G>T	XP_024306775.1:n.*8G>T
NM_001165967.2:c.*8G>T MANE Select	NP_001159439.1:n.*8G>T
NM_032580.4:c.*8G>T	NP_115969.2:n.*8G>T