Canonical Allele Identifier: CA497760854
Gene: HES7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.8024988G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121670G>C , CM000679.2:g.8121670G>C GRCh38
NC_000017.10:g.8024988G>C , CM000679.1:g.8024988G>C GRCh37
NC_000017.9:g.7965713G>C NCBI36
NG_015807.1:g.2247C>G
NG_015816.1:g.7423C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.594C>G MANE Select ENSP00000446205.2:p.Leu198=
ENST00000317814.8:c.579C>G ENSP00000314774.4:p.Leu193=
ENST00000541682.6:c.594C>G ENSP00000446205.2:p.Leu198=
NM_001165967.1:c.594C>G NP_001159439.1:p.Leu198=
NM_032580.3:c.579C>G NP_115969.2:p.Leu193=
XM_011524038.1:c.699C>G XP_011522340.1:p.Leu233=
XM_011524039.1:c.690C>G XP_011522341.1:p.Leu230=
XM_011524040.1:c.690C>G XP_011522342.1:p.Leu230=
XM_011524041.1:c.681C>G XP_011522343.1:p.Leu227=
XM_011524042.1:c.552C>G XP_011522344.1:p.Leu184=
XR_934203.1:n.69+1856G>C
XM_017025232.1:c.699C>G XP_016880721.1:p.Leu233=
XM_024451007.1:c.699C>G XP_024306775.1:p.Leu233=
NM_001165967.2:c.594C>G MANE Select NP_001159439.1:p.Leu198=
NM_032580.4:c.579C>G NP_115969.2:p.Leu193=