Canonical Allele Identifier: CA526638
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 2519248
dbSNP Id: rs765598128
gnomAD v2: 1-1470833-C-T
gnomAD v3: 1-1535453-C-T
gnomAD v4: 1-1535453-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535453C>T , CM000663.2:g.1535453C>T GRCh38
NC_000001.10:g.1470833C>T , CM000663.1:g.1470833C>T GRCh37
NC_000001.9:g.1460696C>T NCBI36
NG_041807.1:g.9908G>A
NG_053035.1:g.28311C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.428G>A MANE Select ENSP00000368007.4:p.Arg143Gln
ENST00000378733.8:c.428G>A ENSP00000368007.4:p.Arg143Gln
ENST00000425828.1:c.428G>A ENSP00000400311.1:p.Arg143Gln
NM_001114748.1:c.428G>A NP_001108220.1:p.Arg143Gln
NM_001114748.2:c.428G>A MANE Select NP_001108220.1:p.Arg143Gln