Canonical Allele Identifier: CA397988742

Gene: HES7

Linked Data

• dbSNP Id: rs1172990966
• gnomAD v2: 17-8025280-A-G
• gnomAD v3: 17-8121962-A-G
• gnomAD v4: 17-8121962-A-G
• MyVariant Identifiers: chr17:g.8025280A>G (hg19) ; chr17:g.8121962A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121962A>G , CM000679.2:g.8121962A>G	GRCh38
NC_000017.10:g.8025280A>G , CM000679.1:g.8025280A>G	GRCh37
NC_000017.9:g.7966005A>G	NCBI36
NG_015807.1:g.1955T>C
NG_015816.1:g.7131T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.302T>C MANE Select	ENSP00000446205.2:p.Phe101Ser
ENST00000317814.8:c.287T>C	ENSP00000314774.4:p.Phe96Ser
ENST00000541682.6:c.302T>C	ENSP00000446205.2:p.Phe101Ser
ENST00000577735.1:c.278T>C	ENSP00000462491.1:p.Phe93Ser
NM_001165967.1:c.302T>C	NP_001159439.1:p.Phe101Ser
NM_032580.3:c.287T>C	NP_115969.2:p.Phe96Ser
XM_011524038.1:c.407T>C	XP_011522340.1:p.Phe136Ser
XM_011524039.1:c.398T>C	XP_011522341.1:p.Phe133Ser
XM_011524040.1:c.398T>C	XP_011522342.1:p.Phe133Ser
XM_011524041.1:c.389T>C	XP_011522343.1:p.Phe130Ser
XM_011524042.1:c.260T>C	XP_011522344.1:p.Phe87Ser
XR_934203.1:n.69+2148A>G
XM_017025232.1:c.407T>C	XP_016880721.1:p.Phe136Ser
XM_024451007.1:c.407T>C	XP_024306775.1:p.Phe136Ser
NM_001165967.2:c.302T>C MANE Select	NP_001159439.1:p.Phe101Ser
NM_032580.4:c.287T>C	NP_115969.2:p.Phe96Ser