Canonical Allele Identifier: CA497955025

Gene: HES7

Linked Data

• ClinVar Variation Id: 1945841
• ClinVar RCV Id: RCV002667385
• MyVariant Identifiers: chr17:g.8025021C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121703C>G , CM000679.2:g.8121703C>G	GRCh38
NC_000017.10:g.8025021C>G , CM000679.1:g.8025021C>G	GRCh37
NC_000017.9:g.7965746C>G	NCBI36
NG_015807.1:g.2214G>C
NG_015816.1:g.7390G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.561G>C MANE Select	ENSP00000446205.2:p.Pro187=
ENST00000317814.8:c.546G>C	ENSP00000314774.4:p.Pro182=
ENST00000541682.6:c.561G>C	ENSP00000446205.2:p.Pro187=
NM_001165967.1:c.561G>C	NP_001159439.1:p.Pro187=
NM_032580.3:c.546G>C	NP_115969.2:p.Pro182=
XM_011524038.1:c.666G>C	XP_011522340.1:p.Pro222=
XM_011524039.1:c.657G>C	XP_011522341.1:p.Pro219=
XM_011524040.1:c.657G>C	XP_011522342.1:p.Pro219=
XM_011524041.1:c.648G>C	XP_011522343.1:p.Pro216=
XM_011524042.1:c.519G>C	XP_011522344.1:p.Pro173=
XR_934203.1:n.69+1889C>G
XM_017025232.1:c.666G>C	XP_016880721.1:p.Pro222=
XM_024451007.1:c.666G>C	XP_024306775.1:p.Pro222=
NM_001165967.2:c.561G>C MANE Select	NP_001159439.1:p.Pro187=
NM_032580.4:c.546G>C	NP_115969.2:p.Pro182=