Canonical Allele Identifier: CA397988690

Gene: HES7

Linked Data

• gnomAD v4: 17-8121953-C-T
• MyVariant Identifiers: chr17:g.8025271C>T (hg19) ; chr17:g.8121953C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121953C>T , CM000679.2:g.8121953C>T	GRCh38
NC_000017.10:g.8025271C>T , CM000679.1:g.8025271C>T	GRCh37
NC_000017.9:g.7965996C>T	NCBI36
NG_015807.1:g.1964G>A
NG_015816.1:g.7140G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.311G>A MANE Select	ENSP00000446205.2:p.Cys104Tyr
ENST00000317814.8:c.296G>A	ENSP00000314774.4:p.Cys99Tyr
ENST00000541682.6:c.311G>A	ENSP00000446205.2:p.Cys104Tyr
ENST00000577735.1:c.287G>A	ENSP00000462491.1:p.Cys96Tyr
NM_001165967.1:c.311G>A	NP_001159439.1:p.Cys104Tyr
NM_032580.3:c.296G>A	NP_115969.2:p.Cys99Tyr
XM_011524038.1:c.416G>A	XP_011522340.1:p.Cys139Tyr
XM_011524039.1:c.407G>A	XP_011522341.1:p.Cys136Tyr
XM_011524040.1:c.407G>A	XP_011522342.1:p.Cys136Tyr
XM_011524041.1:c.398G>A	XP_011522343.1:p.Cys133Tyr
XM_011524042.1:c.269G>A	XP_011522344.1:p.Cys90Tyr
XR_934203.1:n.69+2139C>T
XM_017025232.1:c.416G>A	XP_016880721.1:p.Cys139Tyr
XM_024451007.1:c.416G>A	XP_024306775.1:p.Cys139Tyr
NM_001165967.2:c.311G>A MANE Select	NP_001159439.1:p.Cys104Tyr
NM_032580.4:c.296G>A	NP_115969.2:p.Cys99Tyr