Canonical Allele Identifier: CA337865994
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs1346891814
gnomAD v3: 1-1535444-C-G
gnomAD v4: 1-1535444-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535444C>G , CM000663.2:g.1535444C>G GRCh38
NC_000001.10:g.1470824C>G , CM000663.1:g.1470824C>G GRCh37
NC_000001.9:g.1460687C>G NCBI36
NG_041807.1:g.9917G>C
NG_053035.1:g.28302C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.437G>C MANE Select ENSP00000368007.4:p.Arg146Thr
ENST00000378733.8:c.437G>C ENSP00000368007.4:p.Arg146Thr
ENST00000425828.1:c.437G>C ENSP00000400311.1:p.Arg146Thr
NM_001114748.1:c.437G>C NP_001108220.1:p.Arg146Thr
NM_001114748.2:c.437G>C MANE Select NP_001108220.1:p.Arg146Thr