Canonical Allele Identifier: CA337866329

Gene: TMEM240

Linked Data

• gnomAD v4: 1-1535594-C-A
• MyVariant Identifiers: chr1:g.1470974C>A (hg19) ; chr1:g.1535594C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535594C>A , CM000663.2:g.1535594C>A	GRCh38
NC_000001.10:g.1470974C>A , CM000663.1:g.1470974C>A	GRCh37
NC_000001.9:g.1460837C>A	NCBI36
NG_041807.1:g.9767G>T
NG_053035.1:g.28452C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.368G>T MANE Select	ENSP00000368007.4:p.Arg123Leu
ENST00000378733.8:c.368G>T	ENSP00000368007.4:p.Arg123Leu
ENST00000425828.1:c.368G>T	ENSP00000400311.1:p.Arg123Leu
NM_001114748.1:c.368G>T	NP_001108220.1:p.Arg123Leu
NM_001114748.2:c.368G>T MANE Select	NP_001108220.1:p.Arg123Leu