Canonical Allele Identifier: CA497955040
Gene: HES7 HGNC NCBI

Linked Data

dbSNP Id: rs2151853395
MyVariant Identifiers: chr17:g.8025030G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121712G>A , CM000679.2:g.8121712G>A GRCh38
NC_000017.10:g.8025030G>A , CM000679.1:g.8025030G>A GRCh37
NC_000017.9:g.7965755G>A NCBI36
NG_015807.1:g.2205C>T
NG_015816.1:g.7381C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.552C>T MANE Select ENSP00000446205.2:p.Leu184=
ENST00000317814.8:c.537C>T ENSP00000314774.4:p.Leu179=
ENST00000541682.6:c.552C>T ENSP00000446205.2:p.Leu184=
NM_001165967.1:c.552C>T NP_001159439.1:p.Leu184=
NM_032580.3:c.537C>T NP_115969.2:p.Leu179=
XM_011524038.1:c.657C>T XP_011522340.1:p.Leu219=
XM_011524039.1:c.648C>T XP_011522341.1:p.Leu216=
XM_011524040.1:c.648C>T XP_011522342.1:p.Leu216=
XM_011524041.1:c.639C>T XP_011522343.1:p.Leu213=
XM_011524042.1:c.510C>T XP_011522344.1:p.Leu170=
XR_934203.1:n.69+1898G>A
XM_017025232.1:c.657C>T XP_016880721.1:p.Leu219=
XM_024451007.1:c.657C>T XP_024306775.1:p.Leu219=
NM_001165967.2:c.552C>T MANE Select NP_001159439.1:p.Leu184=
NM_032580.4:c.537C>T NP_115969.2:p.Leu179=