Canonical Allele Identifier: CA497760849
Gene: HES7 HGNC NCBI

Linked Data

dbSNP Id: rs1981331001
MyVariant Identifiers: chr17:g.8024982T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121664T>G , CM000679.2:g.8121664T>G GRCh38
NC_000017.10:g.8024982T>G , CM000679.1:g.8024982T>G GRCh37
NC_000017.9:g.7965707T>G NCBI36
NG_015807.1:g.2253A>C
NG_015816.1:g.7429A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.600A>C MANE Select ENSP00000446205.2:p.Gly200=
ENST00000317814.8:c.585A>C ENSP00000314774.4:p.Gly195=
ENST00000541682.6:c.600A>C ENSP00000446205.2:p.Gly200=
NM_001165967.1:c.600A>C NP_001159439.1:p.Gly200=
NM_032580.3:c.585A>C NP_115969.2:p.Gly195=
XM_011524038.1:c.705A>C XP_011522340.1:p.Gly235=
XM_011524039.1:c.696A>C XP_011522341.1:p.Gly232=
XM_011524040.1:c.696A>C XP_011522342.1:p.Gly232=
XM_011524041.1:c.687A>C XP_011522343.1:p.Gly229=
XM_011524042.1:c.558A>C XP_011522344.1:p.Gly186=
XR_934203.1:n.69+1850T>G
XM_017025232.1:c.705A>C XP_016880721.1:p.Gly235=
XM_024451007.1:c.705A>C XP_024306775.1:p.Gly235=
NM_001165967.2:c.600A>C MANE Select NP_001159439.1:p.Gly200=
NM_032580.4:c.585A>C NP_115969.2:p.Gly195=