Canonical Allele Identifier: CA397986949

Gene: HES7

Linked Data

• gnomAD v4: 17-8121599-G-T
• MyVariant Identifiers: chr17:g.8024917G>T (hg19) ; chr17:g.8121599G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121599G>T , CM000679.2:g.8121599G>T	GRCh38
NC_000017.10:g.8024917G>T , CM000679.1:g.8024917G>T	GRCh37
NC_000017.9:g.7965642G>T	NCBI36
NG_015807.1:g.2318C>A
NG_015816.1:g.7494C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.665C>A MANE Select	ENSP00000446205.2:p.Pro222Gln
ENST00000317814.8:c.650C>A	ENSP00000314774.4:p.Pro217Gln
ENST00000541682.6:c.665C>A	ENSP00000446205.2:p.Pro222Gln
NM_001165967.1:c.665C>A	NP_001159439.1:p.Pro222Gln
NM_032580.3:c.650C>A	NP_115969.2:p.Pro217Gln
XM_011524038.1:c.770C>A	XP_011522340.1:p.Pro257Gln
XM_011524039.1:c.761C>A	XP_011522341.1:p.Pro254Gln
XM_011524040.1:c.761C>A	XP_011522342.1:p.Pro254Gln
XM_011524041.1:c.752C>A	XP_011522343.1:p.Pro251Gln
XM_011524042.1:c.623C>A	XP_011522344.1:p.Pro208Gln
XR_934203.1:n.69+1785G>T
XM_017025232.1:c.770C>A	XP_016880721.1:p.Pro257Gln
XM_024451007.1:c.770C>A	XP_024306775.1:p.Pro257Gln
NM_001165967.2:c.665C>A MANE Select	NP_001159439.1:p.Pro222Gln
NM_032580.4:c.650C>A	NP_115969.2:p.Pro217Gln