Canonical Allele Identifier: CA497760824
Gene: HES7 HGNC NCBI

Linked Data

gnomAD v4: 17-8121640-A-T
MyVariant Identifiers: chr17:g.8024958A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121640A>T , CM000679.2:g.8121640A>T GRCh38
NC_000017.10:g.8024958A>T , CM000679.1:g.8024958A>T GRCh37
NC_000017.9:g.7965683A>T NCBI36
NG_015807.1:g.2277T>A
NG_015816.1:g.7453T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.624T>A MANE Select ENSP00000446205.2:p.Pro208=
ENST00000317814.8:c.609T>A ENSP00000314774.4:p.Pro203=
ENST00000541682.6:c.624T>A ENSP00000446205.2:p.Pro208=
NM_001165967.1:c.624T>A NP_001159439.1:p.Pro208=
NM_032580.3:c.609T>A NP_115969.2:p.Pro203=
XM_011524038.1:c.729T>A XP_011522340.1:p.Pro243=
XM_011524039.1:c.720T>A XP_011522341.1:p.Pro240=
XM_011524040.1:c.720T>A XP_011522342.1:p.Pro240=
XM_011524041.1:c.711T>A XP_011522343.1:p.Pro237=
XM_011524042.1:c.582T>A XP_011522344.1:p.Pro194=
XR_934203.1:n.69+1826A>T
XM_017025232.1:c.729T>A XP_016880721.1:p.Pro243=
XM_024451007.1:c.729T>A XP_024306775.1:p.Pro243=
NM_001165967.2:c.624T>A MANE Select NP_001159439.1:p.Pro208=
NM_032580.4:c.609T>A NP_115969.2:p.Pro203=