Canonical Allele Identifier: CA526625

Gene: TMEM240

Linked Data

• dbSNP Id: rs531981268
• ExAC: 1:1470738 C / T
• gnomAD v2: 1-1470738-C-T
• gnomAD v3: 1-1535358-C-T
• gnomAD v4: 1-1535358-C-T
• MyVariant Identifiers: chr1:g.1470738C>T (hg19) ; chr1:g.1535358C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535358C>T , CM000663.2:g.1535358C>T	GRCh38
NC_000001.10:g.1470738C>T , CM000663.1:g.1470738C>T	GRCh37
NC_000001.9:g.1460601C>T	NCBI36
NG_041807.1:g.10003G>A
NG_053035.1:g.28216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.*1G>A MANE Select	ENSP00000368007.4:n.*1G>A
ENST00000378733.8:c.*1G>A	ENSP00000368007.4:n.*1G>A
ENST00000425828.1:c.*1G>A	ENSP00000400311.1:n.*1G>A
NM_001114748.1:c.*1G>A	NP_001108220.1:n.*1G>A
NM_001114748.2:c.*1G>A MANE Select	NP_001108220.1:n.*1G>A