Canonical Allele Identifier: CA397987630

Gene: HES7

Linked Data

• gnomAD v4: 17-8121723-A-G
• MyVariant Identifiers: chr17:g.8025041A>G (hg19) ; chr17:g.8121723A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121723A>G , CM000679.2:g.8121723A>G	GRCh38
NC_000017.10:g.8025041A>G , CM000679.1:g.8025041A>G	GRCh37
NC_000017.9:g.7965766A>G	NCBI36
NG_015807.1:g.2194T>C
NG_015816.1:g.7370T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.541T>C MANE Select	ENSP00000446205.2:p.Ser181Pro
ENST00000317814.8:c.526T>C	ENSP00000314774.4:p.Ser176Pro
ENST00000541682.6:c.541T>C	ENSP00000446205.2:p.Ser181Pro
NM_001165967.1:c.541T>C	NP_001159439.1:p.Ser181Pro
NM_032580.3:c.526T>C	NP_115969.2:p.Ser176Pro
XM_011524038.1:c.646T>C	XP_011522340.1:p.Ser216Pro
XM_011524039.1:c.637T>C	XP_011522341.1:p.Ser213Pro
XM_011524040.1:c.637T>C	XP_011522342.1:p.Ser213Pro
XM_011524041.1:c.628T>C	XP_011522343.1:p.Ser210Pro
XM_011524042.1:c.499T>C	XP_011522344.1:p.Ser167Pro
XR_934203.1:n.69+1909A>G
XM_017025232.1:c.646T>C	XP_016880721.1:p.Ser216Pro
XM_024451007.1:c.646T>C	XP_024306775.1:p.Ser216Pro
NM_001165967.2:c.541T>C MANE Select	NP_001159439.1:p.Ser181Pro
NM_032580.4:c.526T>C	NP_115969.2:p.Ser176Pro