Canonical Allele Identifier: CA337866464

Gene: TMEM240

Linked Data

• gnomAD v4: 1-1535623-G-T
• MyVariant Identifiers: chr1:g.1471003G>T (hg19) ; chr1:g.1535623G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535623G>T , CM000663.2:g.1535623G>T	GRCh38
NC_000001.10:g.1471003G>T , CM000663.1:g.1471003G>T	GRCh37
NC_000001.9:g.1460866G>T	NCBI36
NG_041807.1:g.9738C>A
NG_053035.1:g.28481G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.339C>A MANE Select	ENSP00000368007.4:p.Cys113Ter
ENST00000378733.8:c.339C>A	ENSP00000368007.4:p.Cys113Ter
ENST00000425828.1:c.339C>A	ENSP00000400311.1:p.Cys113Ter
NM_001114748.1:c.339C>A	NP_001108220.1:p.Cys113Ter
NM_001114748.2:c.339C>A MANE Select	NP_001108220.1:p.Cys113Ter