Canonical Allele Identifier: CA526694

Gene: TMEM240

Linked Data

• ClinVar Variation Id: 720069
• ClinVar RCV Id: RCV000893324 ; RCV003940737
• dbSNP Id: rs114114317
• ExAC: 1:1471126 G / A
• gnomAD v2: 1-1471126-G-A
• gnomAD v3: 1-1535746-G-A
• gnomAD v4: 1-1535746-G-A
• MyVariant Identifiers: chr1:g.1471126G>A (hg19) ; chr1:g.1535746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535746G>A , CM000663.2:g.1535746G>A	GRCh38
NC_000001.10:g.1471126G>A , CM000663.1:g.1471126G>A	GRCh37
NC_000001.9:g.1460989G>A	NCBI36
NG_041807.1:g.9615C>T
NG_053035.1:g.28604G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.216C>T MANE Select	ENSP00000368007.4:p.Asp72=
ENST00000378733.8:c.216C>T	ENSP00000368007.4:p.Asp72=
ENST00000425828.1:c.216C>T	ENSP00000400311.1:p.Asp72=
NM_001114748.1:c.216C>T	NP_001108220.1:p.Asp72=
NM_001114748.2:c.216C>T MANE Select	NP_001108220.1:p.Asp72=