Canonical Allele Identifier: CA397989130

Gene: HES7

Linked Data

• dbSNP Id: rs1330528421
• gnomAD v2: 17-8025349-G-C
• gnomAD v4: 17-8122031-G-C
• MyVariant Identifiers: chr17:g.8025349G>C (hg19) ; chr17:g.8122031G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122031G>C , CM000679.2:g.8122031G>C	GRCh38
NC_000017.10:g.8025349G>C , CM000679.1:g.8025349G>C	GRCh37
NC_000017.9:g.7966074G>C	NCBI36
NG_015807.1:g.1886C>G
NG_015816.1:g.7062C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.233C>G MANE Select	ENSP00000446205.2:p.Ala78Gly
ENST00000317814.8:c.227-9C>G	ENSP00000314774.4:n.227-9C>G
ENST00000541682.6:c.233C>G	ENSP00000446205.2:p.Ala78Gly
ENST00000577735.1:c.209C>G	ENSP00000462491.1:p.Ala70Gly
NM_001165967.1:c.233C>G	NP_001159439.1:p.Ala78Gly
NM_032580.3:c.227-9C>G	NP_115969.2:n.227-9C>G
XM_011524038.1:c.338C>G	XP_011522340.1:p.Ala113Gly
XM_011524039.1:c.329C>G	XP_011522341.1:p.Ala110Gly
XM_011524040.1:c.329C>G	XP_011522342.1:p.Ala110Gly
XM_011524041.1:c.320C>G	XP_011522343.1:p.Ala107Gly
XM_011524042.1:c.191C>G	XP_011522344.1:p.Ala64Gly
XR_934203.1:n.69+2217G>C
XM_017025232.1:c.338C>G	XP_016880721.1:p.Ala113Gly
XM_024451007.1:c.338C>G	XP_024306775.1:p.Ala113Gly
NM_001165967.2:c.233C>G MANE Select	NP_001159439.1:p.Ala78Gly
NM_032580.4:c.227-9C>G	NP_115969.2:n.227-9C>G