Canonical Allele Identifier: CA16796641
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 2403158
dbSNP Id: rs1026446550
gnomAD v2: 1-1470834-G-A
gnomAD v3: 1-1535454-G-A
gnomAD v4: 1-1535454-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535454G>A , CM000663.2:g.1535454G>A GRCh38
NC_000001.10:g.1470834G>A , CM000663.1:g.1470834G>A GRCh37
NC_000001.9:g.1460697G>A NCBI36
NG_041807.1:g.9907C>T
NG_053035.1:g.28312G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.427C>T MANE Select ENSP00000368007.4:p.Arg143Trp
ENST00000378733.8:c.427C>T ENSP00000368007.4:p.Arg143Trp
ENST00000425828.1:c.427C>T ENSP00000400311.1:p.Arg143Trp
NM_001114748.1:c.427C>T NP_001108220.1:p.Arg143Trp
NM_001114748.2:c.427C>T MANE Select NP_001108220.1:p.Arg143Trp