Canonical Allele Identifier: CA337866852

Gene: TMEM240

Linked Data

• gnomAD v4: 1-1535694-G-A
• MyVariant Identifiers: chr1:g.1471074G>A (hg19) ; chr1:g.1535694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535694G>A , CM000663.2:g.1535694G>A	GRCh38
NC_000001.10:g.1471074G>A , CM000663.1:g.1471074G>A	GRCh37
NC_000001.9:g.1460937G>A	NCBI36
NG_041807.1:g.9667C>T
NG_053035.1:g.28552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.268C>T MANE Select	ENSP00000368007.4:p.Leu90Phe
ENST00000378733.8:c.268C>T	ENSP00000368007.4:p.Leu90Phe
ENST00000425828.1:c.268C>T	ENSP00000400311.1:p.Leu90Phe
NM_001114748.1:c.268C>T	NP_001108220.1:p.Leu90Phe
NM_001114748.2:c.268C>T MANE Select	NP_001108220.1:p.Leu90Phe