Canonical Allele Identifier: CA397989015

Gene: HES7

Linked Data

• gnomAD v4: 17-8122011-A-G
• MyVariant Identifiers: chr17:g.8025329A>G (hg19) ; chr17:g.8122011A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122011A>G , CM000679.2:g.8122011A>G	GRCh38
NC_000017.10:g.8025329A>G , CM000679.1:g.8025329A>G	GRCh37
NC_000017.9:g.7966054A>G	NCBI36
NG_015807.1:g.1906T>C
NG_015816.1:g.7082T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.253T>C MANE Select	ENSP00000446205.2:p.Ser85Pro
ENST00000317814.8:c.238T>C	ENSP00000314774.4:p.Ser80Pro
ENST00000541682.6:c.253T>C	ENSP00000446205.2:p.Ser85Pro
ENST00000577735.1:c.229T>C	ENSP00000462491.1:p.Ser77Pro
NM_001165967.1:c.253T>C	NP_001159439.1:p.Ser85Pro
NM_032580.3:c.238T>C	NP_115969.2:p.Ser80Pro
XM_011524038.1:c.358T>C	XP_011522340.1:p.Ser120Pro
XM_011524039.1:c.349T>C	XP_011522341.1:p.Ser117Pro
XM_011524040.1:c.349T>C	XP_011522342.1:p.Ser117Pro
XM_011524041.1:c.340T>C	XP_011522343.1:p.Ser114Pro
XM_011524042.1:c.211T>C	XP_011522344.1:p.Ser71Pro
XR_934203.1:n.69+2197A>G
XM_017025232.1:c.358T>C	XP_016880721.1:p.Ser120Pro
XM_024451007.1:c.358T>C	XP_024306775.1:p.Ser120Pro
NM_001165967.2:c.253T>C MANE Select	NP_001159439.1:p.Ser85Pro
NM_032580.4:c.238T>C	NP_115969.2:p.Ser80Pro