Canonical Allele Identifier: CA497760815
Gene: HES7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.8024940C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121622C>G , CM000679.2:g.8121622C>G GRCh38
NC_000017.10:g.8024940C>G , CM000679.1:g.8024940C>G GRCh37
NC_000017.9:g.7965665C>G NCBI36
NG_015807.1:g.2295G>C
NG_015816.1:g.7471G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.642G>C MANE Select ENSP00000446205.2:p.Ala214=
ENST00000317814.8:c.627G>C ENSP00000314774.4:p.Ala209=
ENST00000541682.6:c.642G>C ENSP00000446205.2:p.Ala214=
NM_001165967.1:c.642G>C NP_001159439.1:p.Ala214=
NM_032580.3:c.627G>C NP_115969.2:p.Ala209=
XM_011524038.1:c.747G>C XP_011522340.1:p.Ala249=
XM_011524039.1:c.738G>C XP_011522341.1:p.Ala246=
XM_011524040.1:c.738G>C XP_011522342.1:p.Ala246=
XM_011524041.1:c.729G>C XP_011522343.1:p.Ala243=
XM_011524042.1:c.600G>C XP_011522344.1:p.Ala200=
XR_934203.1:n.69+1808C>G
XM_017025232.1:c.747G>C XP_016880721.1:p.Ala249=
XM_024451007.1:c.747G>C XP_024306775.1:p.Ala249=
NM_001165967.2:c.642G>C MANE Select NP_001159439.1:p.Ala214=
NM_032580.4:c.627G>C NP_115969.2:p.Ala209=