Canonical Allele Identifier: CA4222490
Gene: NME8 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1980757
ClinVar RCV Id: RCV002761578
dbSNP Id: rs779494301
ExAC: 7:37927920 A / G
gnomAD v2: 7-37927920-A-G
gnomAD v3: 7-37888318-A-G
gnomAD v4: 7-37888318-A-G
MyVariant Identifiers: chr7:g.37927920A>G (hg19) chr7:g.37888318A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888318A>G , CM000669.2:g.37888318A>G GRCh38
NC_000007.13:g.37927920A>G , CM000669.1:g.37927920A>G GRCh37
NC_000007.12:g.37894445A>G NCBI36
NG_015893.1:g.44722A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.1289A>G (NME8) MANE Select ENSP00000199447.4:p.Gln430Arg
ENST00000199447.8:c.1289A>G (NME8) ENSP00000199447.4:p.Gln430Arg
ENST00000426106.1:c.*235A>G (NME8) ENSP00000408841.1:n.*235A>G
ENST00000440017.5:c.1289A>G (NME8) ENSP00000397063.1:p.Gln430Arg
ENST00000476620.1:c.-38+30973A>G (EPDR1) ENSP00000425858.1:n.-38+30973A>G
NM_016616.4:c.1289A>G (NME8) NP_057700.3:p.Gln430Arg
NM_016616.5:c.1289A>G (NME8) MANE Select NP_057700.3:p.Gln430Arg
Search 100 bp 5'
Search 100 bp 3'