Canonical Allele Identifier: CA16796522
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs901683540
gnomAD v3: 1-1535308-A-G
gnomAD v4: 1-1535308-A-G
MyVariant Identifiers: chr1:g.1470688A>G (hg19) chr1:g.1535308A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535308A>G , CM000663.2:g.1535308A>G GRCh38
NC_000001.10:g.1470688A>G , CM000663.1:g.1470688A>G GRCh37
NC_000001.9:g.1460551A>G NCBI36
NG_041807.1:g.10053T>C
NG_053035.1:g.28166A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.*51T>C MANE Select ENSP00000368007.4:n.*51T>C
ENST00000378733.8:c.*51T>C ENSP00000368007.4:n.*51T>C
ENST00000425828.1:c.*51T>C ENSP00000400311.1:n.*51T>C
NM_001114748.1:c.*51T>C NP_001108220.1:n.*51T>C
NM_001114748.2:c.*51T>C MANE Select NP_001108220.1:n.*51T>C
Search 100 bp 5'
Search 100 bp 3'