Canonical Allele Identifier: CA337866467

Gene: TMEM240

Linked Data

• MyVariant Identifiers: chr1:g.1471004C>A (hg19) ; chr1:g.1535624C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535624C>A , CM000663.2:g.1535624C>A	GRCh38
NC_000001.10:g.1471004C>A , CM000663.1:g.1471004C>A	GRCh37
NC_000001.9:g.1460867C>A	NCBI36
NG_041807.1:g.9737G>T
NG_053035.1:g.28482C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.338G>T MANE Select	ENSP00000368007.4:p.Cys113Phe
ENST00000378733.8:c.338G>T	ENSP00000368007.4:p.Cys113Phe
ENST00000425828.1:c.338G>T	ENSP00000400311.1:p.Cys113Phe
NM_001114748.1:c.338G>T	NP_001108220.1:p.Cys113Phe
NM_001114748.2:c.338G>T MANE Select	NP_001108220.1:p.Cys113Phe