Canonical Allele Identifier: CA4222131
Gene: NME8 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2145733
ClinVar RCV Id: RCV003065181
dbSNP Id: rs370705490
ExAC: 7:37901615 T / G
gnomAD v2: 7-37901615-T-G
gnomAD v3: 7-37862013-T-G
gnomAD v4: 7-37862013-T-G
MyVariant Identifiers: chr7:g.37901615T>G (hg19) chr7:g.37862013T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37862013T>G , CM000669.2:g.37862013T>G GRCh38
NC_000007.13:g.37901615T>G , CM000669.1:g.37901615T>G GRCh37
NC_000007.12:g.37868140T>G NCBI36
NG_015893.1:g.18417T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000199447.9:c.271-15T>G (NME8) MANE Select ENSP00000199447.4:n.271-15T>G
ENST00000199447.8:c.271-15T>G (NME8) ENSP00000199447.4:n.271-15T>G
ENST00000426106.1:c.105+4668T>G (NME8) ENSP00000408841.1:n.105+4668T>G
ENST00000440017.5:c.271-15T>G (NME8) ENSP00000397063.1:n.271-15T>G
ENST00000444718.5:c.106-15T>G (NME8) ENSP00000390596.1:n.106-15T>G
ENST00000455500.5:c.106-15T>G (NME8) ENSP00000390047.1:n.106-15T>G
ENST00000476620.1:c.-38+4668T>G (EPDR1) ENSP00000425858.1:n.-38+4668T>G
NM_016616.4:c.271-15T>G (NME8) NP_057700.3:n.271-15T>G
NM_016616.5:c.271-15T>G (NME8) MANE Select NP_057700.3:n.271-15T>G
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