Canonical Allele Identifier: CA8368629

Gene: HES7

Linked Data

• dbSNP Id: rs776500517
• ExAC: 17:8025140 G / A
• gnomAD v2: 17-8025140-G-A
• gnomAD v4: 17-8121822-G-A
• MyVariant Identifiers: chr17:g.8025140G>A (hg19) ; chr17:g.8121822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121822G>A , CM000679.2:g.8121822G>A	GRCh38
NC_000017.10:g.8025140G>A , CM000679.1:g.8025140G>A	GRCh37
NC_000017.9:g.7965865G>A	NCBI36
NG_015807.1:g.2095C>T
NG_015816.1:g.7271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.442C>T MANE Select	ENSP00000446205.2:p.Pro148Ser
ENST00000317814.8:c.427C>T	ENSP00000314774.4:p.Pro143Ser
ENST00000541682.6:c.442C>T	ENSP00000446205.2:p.Pro148Ser
ENST00000577735.1:c.418C>T	ENSP00000462491.1:p.Pro140Ser
NM_001165967.1:c.442C>T	NP_001159439.1:p.Pro148Ser
NM_032580.3:c.427C>T	NP_115969.2:p.Pro143Ser
XM_011524038.1:c.547C>T	XP_011522340.1:p.Pro183Ser
XM_011524039.1:c.538C>T	XP_011522341.1:p.Pro180Ser
XM_011524040.1:c.538C>T	XP_011522342.1:p.Pro180Ser
XM_011524041.1:c.529C>T	XP_011522343.1:p.Pro177Ser
XM_011524042.1:c.400C>T	XP_011522344.1:p.Pro134Ser
XR_934203.1:n.69+2008G>A
XM_017025232.1:c.547C>T	XP_016880721.1:p.Pro183Ser
XM_024451007.1:c.547C>T	XP_024306775.1:p.Pro183Ser
NM_001165967.2:c.442C>T MANE Select	NP_001159439.1:p.Pro148Ser
NM_032580.4:c.427C>T	NP_115969.2:p.Pro143Ser