Canonical Allele Identifier: CA415768677
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs1460177896
gnomAD v2: 1-1471108-A-G
MyVariant Identifiers: chr1:g.1471108A>G (hg19) chr1:g.1535728A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535728A>G , CM000663.2:g.1535728A>G GRCh38
NC_000001.10:g.1471108A>G , CM000663.1:g.1471108A>G GRCh37
NC_000001.9:g.1460971A>G NCBI36
NG_041807.1:g.9633T>C
NG_053035.1:g.28586A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.234T>C MANE Select ENSP00000368007.4:p.Phe78=
ENST00000378733.8:c.234T>C ENSP00000368007.4:p.Phe78=
ENST00000425828.1:c.234T>C ENSP00000400311.1:p.Phe78=
NM_001114748.1:c.234T>C NP_001108220.1:p.Phe78=
NM_001114748.2:c.234T>C MANE Select NP_001108220.1:p.Phe78=
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