Canonical Allele Identifier: CA415768669
Gene: TMEM240 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.1471093C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535713C>G , CM000663.2:g.1535713C>G GRCh38
NC_000001.10:g.1471093C>G , CM000663.1:g.1471093C>G GRCh37
NC_000001.9:g.1460956C>G NCBI36
NG_041807.1:g.9648G>C
NG_053035.1:g.28571C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.249G>C MANE Select ENSP00000368007.4:p.Val83=
ENST00000378733.8:c.249G>C ENSP00000368007.4:p.Val83=
ENST00000425828.1:c.249G>C ENSP00000400311.1:p.Val83=
NM_001114748.1:c.249G>C NP_001108220.1:p.Val83=
NM_001114748.2:c.249G>C MANE Select NP_001108220.1:p.Val83=