Canonical Allele Identifier: CA397987618

Gene: HES7

Linked Data

• dbSNP Id: rs1188358371
• gnomAD v2: 17-8025038-G-C
• gnomAD v3: 17-8121720-G-C
• gnomAD v4: 17-8121720-G-C
• MyVariant Identifiers: chr17:g.8025038G>C (hg19) ; chr17:g.8121720G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121720G>C , CM000679.2:g.8121720G>C	GRCh38
NC_000017.10:g.8025038G>C , CM000679.1:g.8025038G>C	GRCh37
NC_000017.9:g.7965763G>C	NCBI36
NG_015807.1:g.2197C>G
NG_015816.1:g.7373C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.544C>G MANE Select	ENSP00000446205.2:p.Pro182Ala
ENST00000317814.8:c.529C>G	ENSP00000314774.4:p.Pro177Ala
ENST00000541682.6:c.544C>G	ENSP00000446205.2:p.Pro182Ala
NM_001165967.1:c.544C>G	NP_001159439.1:p.Pro182Ala
NM_032580.3:c.529C>G	NP_115969.2:p.Pro177Ala
XM_011524038.1:c.649C>G	XP_011522340.1:p.Pro217Ala
XM_011524039.1:c.640C>G	XP_011522341.1:p.Pro214Ala
XM_011524040.1:c.640C>G	XP_011522342.1:p.Pro214Ala
XM_011524041.1:c.631C>G	XP_011522343.1:p.Pro211Ala
XM_011524042.1:c.502C>G	XP_011522344.1:p.Pro168Ala
XR_934203.1:n.69+1906G>C
XM_017025232.1:c.649C>G	XP_016880721.1:p.Pro217Ala
XM_024451007.1:c.649C>G	XP_024306775.1:p.Pro217Ala
NM_001165967.2:c.544C>G MANE Select	NP_001159439.1:p.Pro182Ala
NM_032580.4:c.529C>G	NP_115969.2:p.Pro177Ala