Canonical Allele Identifier: CA497955451
Gene: HES7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.8025201C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121883C>G , CM000679.2:g.8121883C>G GRCh38
NC_000017.10:g.8025201C>G , CM000679.1:g.8025201C>G GRCh37
NC_000017.9:g.7965926C>G NCBI36
NG_015807.1:g.2034G>C
NG_015816.1:g.7210G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.381G>C MANE Select ENSP00000446205.2:p.Leu127=
ENST00000317814.8:c.366G>C ENSP00000314774.4:p.Leu122=
ENST00000541682.6:c.381G>C ENSP00000446205.2:p.Leu127=
ENST00000577735.1:c.357G>C ENSP00000462491.1:p.Leu119=
NM_001165967.1:c.381G>C NP_001159439.1:p.Leu127=
NM_032580.3:c.366G>C NP_115969.2:p.Leu122=
XM_011524038.1:c.486G>C XP_011522340.1:p.Leu162=
XM_011524039.1:c.477G>C XP_011522341.1:p.Leu159=
XM_011524040.1:c.477G>C XP_011522342.1:p.Leu159=
XM_011524041.1:c.468G>C XP_011522343.1:p.Leu156=
XM_011524042.1:c.339G>C XP_011522344.1:p.Leu113=
XR_934203.1:n.69+2069C>G
XM_017025232.1:c.486G>C XP_016880721.1:p.Leu162=
XM_024451007.1:c.486G>C XP_024306775.1:p.Leu162=
NM_001165967.2:c.381G>C MANE Select NP_001159439.1:p.Leu127=
NM_032580.4:c.366G>C NP_115969.2:p.Leu122=