Canonical Allele Identifier: CA397989148

Gene: HES7

Linked Data

• gnomAD v4: 17-8122034-G-C
• MyVariant Identifiers: chr17:g.8025352G>C (hg19) ; chr17:g.8122034G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122034G>C , CM000679.2:g.8122034G>C	GRCh38
NC_000017.10:g.8025352G>C , CM000679.1:g.8025352G>C	GRCh37
NC_000017.9:g.7966077G>C	NCBI36
NG_015807.1:g.1883C>G
NG_015816.1:g.7059C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.230C>G MANE Select	ENSP00000446205.2:p.Ala77Gly
ENST00000317814.8:c.227-12C>G	ENSP00000314774.4:n.227-12C>G
ENST00000541682.6:c.230C>G	ENSP00000446205.2:p.Ala77Gly
ENST00000577735.1:c.206C>G	ENSP00000462491.1:p.Ala69Gly
NM_001165967.1:c.230C>G	NP_001159439.1:p.Ala77Gly
NM_032580.3:c.227-12C>G	NP_115969.2:n.227-12C>G
XM_011524038.1:c.335C>G	XP_011522340.1:p.Ala112Gly
XM_011524039.1:c.326C>G	XP_011522341.1:p.Ala109Gly
XM_011524040.1:c.326C>G	XP_011522342.1:p.Ala109Gly
XM_011524041.1:c.317C>G	XP_011522343.1:p.Ala106Gly
XM_011524042.1:c.188C>G	XP_011522344.1:p.Ala63Gly
XR_934203.1:n.69+2220G>C
XM_017025232.1:c.335C>G	XP_016880721.1:p.Ala112Gly
XM_024451007.1:c.335C>G	XP_024306775.1:p.Ala112Gly
NM_001165967.2:c.230C>G MANE Select	NP_001159439.1:p.Ala77Gly
NM_032580.4:c.227-12C>G	NP_115969.2:n.227-12C>G