Canonical Allele Identifier: CA497955411
Gene: HES7 HGNC NCBI

Linked Data

gnomAD v4: 17-8122006-T-C
MyVariant Identifiers: chr17:g.8025324T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8122006T>C , CM000679.2:g.8122006T>C GRCh38
NC_000017.10:g.8025324T>C , CM000679.1:g.8025324T>C GRCh37
NC_000017.9:g.7966049T>C NCBI36
NG_015807.1:g.1911A>G
NG_015816.1:g.7087A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.258A>G MANE Select ENSP00000446205.2:p.Pro86=
ENST00000317814.8:c.243A>G ENSP00000314774.4:p.Pro81=
ENST00000541682.6:c.258A>G ENSP00000446205.2:p.Pro86=
ENST00000577735.1:c.234A>G ENSP00000462491.1:p.Pro78=
NM_001165967.1:c.258A>G NP_001159439.1:p.Pro86=
NM_032580.3:c.243A>G NP_115969.2:p.Pro81=
XM_011524038.1:c.363A>G XP_011522340.1:p.Pro121=
XM_011524039.1:c.354A>G XP_011522341.1:p.Pro118=
XM_011524040.1:c.354A>G XP_011522342.1:p.Pro118=
XM_011524041.1:c.345A>G XP_011522343.1:p.Pro115=
XM_011524042.1:c.216A>G XP_011522344.1:p.Pro72=
XR_934203.1:n.69+2192T>C
XM_017025232.1:c.363A>G XP_016880721.1:p.Pro121=
XM_024451007.1:c.363A>G XP_024306775.1:p.Pro121=
NM_001165967.2:c.258A>G MANE Select NP_001159439.1:p.Pro86=
NM_032580.4:c.243A>G NP_115969.2:p.Pro81=