Canonical Allele Identifier: CA497760834

Gene: HES7

Linked Data

• gnomAD v4: 17-8121652-C-G
• MyVariant Identifiers: chr17:g.8024970C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121652C>G , CM000679.2:g.8121652C>G	GRCh38
NC_000017.10:g.8024970C>G , CM000679.1:g.8024970C>G	GRCh37
NC_000017.9:g.7965695C>G	NCBI36
NG_015807.1:g.2265G>C
NG_015816.1:g.7441G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.612G>C MANE Select	ENSP00000446205.2:p.Pro204=
ENST00000317814.8:c.597G>C	ENSP00000314774.4:p.Pro199=
ENST00000541682.6:c.612G>C	ENSP00000446205.2:p.Pro204=
NM_001165967.1:c.612G>C	NP_001159439.1:p.Pro204=
NM_032580.3:c.597G>C	NP_115969.2:p.Pro199=
XM_011524038.1:c.717G>C	XP_011522340.1:p.Pro239=
XM_011524039.1:c.708G>C	XP_011522341.1:p.Pro236=
XM_011524040.1:c.708G>C	XP_011522342.1:p.Pro236=
XM_011524041.1:c.699G>C	XP_011522343.1:p.Pro233=
XM_011524042.1:c.570G>C	XP_011522344.1:p.Pro190=
XR_934203.1:n.69+1838C>G
XM_017025232.1:c.717G>C	XP_016880721.1:p.Pro239=
XM_024451007.1:c.717G>C	XP_024306775.1:p.Pro239=
NM_001165967.2:c.612G>C MANE Select	NP_001159439.1:p.Pro204=
NM_032580.4:c.597G>C	NP_115969.2:p.Pro199=