Canonical Allele Identifier: CA454693336

Gene: NME8 EPDR1

Linked Data

• ClinVar Variation Id: 1014712
• ClinVar RCV Id: RCV001313480
• dbSNP Id: rs1785074828
• gnomAD v4: 7-37888328-C-T
• MyVariant Identifiers: chr7:g.37927930C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37888328C>T , CM000669.2:g.37888328C>T	GRCh38
NC_000007.13:g.37927930C>T , CM000669.1:g.37927930C>T	GRCh37
NC_000007.12:g.37894455C>T	NCBI36
NG_015893.1:g.44732C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199447.9:c.1299C>T (NME8) MANE Select	ENSP00000199447.4:p.Gly433=
ENST00000199447.8:c.1299C>T (NME8)	ENSP00000199447.4:p.Gly433=
ENST00000426106.1:c.*245C>T (NME8)	ENSP00000408841.1:n.*245C>T
ENST00000440017.5:c.1299C>T (NME8)	ENSP00000397063.1:p.Gly433=
ENST00000476620.1:c.-38+30983C>T (EPDR1)	ENSP00000425858.1:n.-38+30983C>T
NM_016616.4:c.1299C>T (NME8)	NP_057700.3:p.Gly433=
NM_016616.5:c.1299C>T (NME8) MANE Select	NP_057700.3:p.Gly433=