Canonical Allele Identifier: CA4222135
Gene: NME8 HGNC NCBI
EPDR1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.37862017T>A
GRCh37 chr7:g.37901619T>A
gnomAD v2:
7:37901619 T / A
gnomAD v3:
7:37862017 T / A
gnomAD v4:
chr7-37862017-T-A
Joint Max Group AF 0.00007878 (NFE)
Genomes Max Group AF 0.00002263 (AMR)
Exomes Max Group AF 0.00008193 (NFE)
ClinVar Allele:
369442
ClinVar RCV:
RCV000422636
RCV002524836
ClinVar Variation:
379360
dbSNP:
760643364
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37862017T>A , CM000669.2:g.37862017T>A GRCh38
NC_000007.13:g.37901619T>A , CM000669.1:g.37901619T>A GRCh37
NC_000007.12:g.37868144T>A NCBI36
NG_015893.1:g.18421T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.271-11T>A (NME8) MANE Select ENSP00000199447.4:n.271-11T>A
ENST00000199447.8:c.271-11T>A (NME8) ENSP00000199447.4:n.271-11T>A
ENST00000426106.1:c.105+4672T>A (NME8) ENSP00000408841.1:n.105+4672T>A
ENST00000440017.5:c.271-11T>A (NME8) ENSP00000397063.1:n.271-11T>A
ENST00000444718.5:c.106-11T>A (NME8) ENSP00000390596.1:n.106-11T>A
ENST00000455500.5:c.106-11T>A (NME8) ENSP00000390047.1:n.106-11T>A
ENST00000476620.1:c.-38+4672T>A (EPDR1) ENSP00000425858.1:n.-38+4672T>A
NM_016616.4:c.271-11T>A (NME8) NP_057700.3:n.271-11T>A
NM_016616.5:c.271-11T>A (NME8) MANE Select NP_057700.3:n.271-11T>A
Search 100 bp 5'
Search 100 bp 3'