Canonical Allele Identifier: CA203502

Gene: NME8 EPDR1

Linked Data

• ClinVar Variation Id: 198568
• ClinVar RCV Id: RCV000179950 ; RCV000459051 ; RCV002426860
• dbSNP Id: rs191137504
• ExAC: 7:37901627 T / C
• gnomAD v2: 7-37901627-T-C
• gnomAD v3: 7-37862025-T-C
• gnomAD v4: 7-37862025-T-C
• MyVariant Identifiers: chr7:g.37901627T>C (hg19) ; chr7:g.37862025T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37862025T>C , CM000669.2:g.37862025T>C	GRCh38
NC_000007.13:g.37901627T>C , CM000669.1:g.37901627T>C	GRCh37
NC_000007.12:g.37868152T>C	NCBI36
NG_015893.1:g.18429T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199447.9:c.271-3T>C (NME8) MANE Select	ENSP00000199447.4:n.271-3T>C
ENST00000199447.8:c.271-3T>C (NME8)	ENSP00000199447.4:n.271-3T>C
ENST00000426106.1:c.105+4680T>C (NME8)	ENSP00000408841.1:n.105+4680T>C
ENST00000440017.5:c.271-3T>C (NME8)	ENSP00000397063.1:n.271-3T>C
ENST00000444718.5:c.106-3T>C (NME8)	ENSP00000390596.1:n.106-3T>C
ENST00000455500.5:c.106-3T>C (NME8)	ENSP00000390047.1:n.106-3T>C
ENST00000476620.1:c.-38+4680T>C (EPDR1)	ENSP00000425858.1:n.-38+4680T>C
NM_016616.4:c.271-3T>C (NME8)	NP_057700.3:n.271-3T>C
NM_016616.5:c.271-3T>C (NME8) MANE Select	NP_057700.3:n.271-3T>C