Canonical Allele Identifier: CA337866291

Gene: TMEM240

Linked Data

• gnomAD v4: 1-1535587-A-G
• MyVariant Identifiers: chr1:g.1470967A>G (hg19) ; chr1:g.1535587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535587A>G , CM000663.2:g.1535587A>G	GRCh38
NC_000001.10:g.1470967A>G , CM000663.1:g.1470967A>G	GRCh37
NC_000001.9:g.1460830A>G	NCBI36
NG_041807.1:g.9774T>C
NG_053035.1:g.28445A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.373+2T>C MANE Select	ENSP00000368007.4:n.373+2T>C
ENST00000378733.8:c.373+2T>C	ENSP00000368007.4:n.373+2T>C
ENST00000425828.1:c.373+2T>C	ENSP00000400311.1:n.373+2T>C
NM_001114748.1:c.373+2T>C	NP_001108220.1:n.373+2T>C
NM_001114748.2:c.373+2T>C MANE Select	NP_001108220.1:n.373+2T>C