Canonical Allele Identifier: CA8368620
Gene: HES7 HGNC NCBI

Linked Data

dbSNP Id: rs754299029
gnomAD v2: 17-8025080-G-C
gnomAD v3: 17-8121762-G-C
gnomAD v4: 17-8121762-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121762G>C , CM000679.2:g.8121762G>C GRCh38
NC_000017.10:g.8025080G>C , CM000679.1:g.8025080G>C GRCh37
NC_000017.9:g.7965805G>C NCBI36
NG_015807.1:g.2155C>G
NG_015816.1:g.7331C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.502C>G MANE Select ENSP00000446205.2:p.Pro168Ala
ENST00000317814.8:c.487C>G ENSP00000314774.4:p.Pro163Ala
ENST00000541682.6:c.502C>G ENSP00000446205.2:p.Pro168Ala
NM_001165967.1:c.502C>G NP_001159439.1:p.Pro168Ala
NM_032580.3:c.487C>G NP_115969.2:p.Pro163Ala
XM_011524038.1:c.607C>G XP_011522340.1:p.Pro203Ala
XM_011524039.1:c.598C>G XP_011522341.1:p.Pro200Ala
XM_011524040.1:c.598C>G XP_011522342.1:p.Pro200Ala
XM_011524041.1:c.589C>G XP_011522343.1:p.Pro197Ala
XM_011524042.1:c.460C>G XP_011522344.1:p.Pro154Ala
XR_934203.1:n.69+1948G>C
XM_017025232.1:c.607C>G XP_016880721.1:p.Pro203Ala
XM_024451007.1:c.607C>G XP_024306775.1:p.Pro203Ala
NM_001165967.2:c.502C>G MANE Select NP_001159439.1:p.Pro168Ala
NM_032580.4:c.487C>G NP_115969.2:p.Pro163Ala