Canonical Allele Identifier: CA397987188

Gene: HES7

Linked Data

• dbSNP Id: rs1285834189
• gnomAD v2: 17-8024962-G-C
• gnomAD v3: 17-8121644-G-C
• gnomAD v4: 17-8121644-G-C
• MyVariant Identifiers: chr17:g.8024962G>C (hg19) ; chr17:g.8121644G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121644G>C , CM000679.2:g.8121644G>C	GRCh38
NC_000017.10:g.8024962G>C , CM000679.1:g.8024962G>C	GRCh37
NC_000017.9:g.7965687G>C	NCBI36
NG_015807.1:g.2273C>G
NG_015816.1:g.7449C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.620C>G MANE Select	ENSP00000446205.2:p.Pro207Arg
ENST00000317814.8:c.605C>G	ENSP00000314774.4:p.Pro202Arg
ENST00000541682.6:c.620C>G	ENSP00000446205.2:p.Pro207Arg
NM_001165967.1:c.620C>G	NP_001159439.1:p.Pro207Arg
NM_032580.3:c.605C>G	NP_115969.2:p.Pro202Arg
XM_011524038.1:c.725C>G	XP_011522340.1:p.Pro242Arg
XM_011524039.1:c.716C>G	XP_011522341.1:p.Pro239Arg
XM_011524040.1:c.716C>G	XP_011522342.1:p.Pro239Arg
XM_011524041.1:c.707C>G	XP_011522343.1:p.Pro236Arg
XM_011524042.1:c.578C>G	XP_011522344.1:p.Pro193Arg
XR_934203.1:n.69+1830G>C
XM_017025232.1:c.725C>G	XP_016880721.1:p.Pro242Arg
XM_024451007.1:c.725C>G	XP_024306775.1:p.Pro242Arg
NM_001165967.2:c.620C>G MANE Select	NP_001159439.1:p.Pro207Arg
NM_032580.4:c.605C>G	NP_115969.2:p.Pro202Arg