Canonical Allele Identifier: CA415388148
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs1156368857
gnomAD v2: 1-1470823-C-T
gnomAD v4: 1-1535443-C-T
MyVariant Identifiers: chr1:g.1470823C>T (hg19) chr1:g.1535443C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535443C>T , CM000663.2:g.1535443C>T GRCh38
NC_000001.10:g.1470823C>T , CM000663.1:g.1470823C>T GRCh37
NC_000001.9:g.1460686C>T NCBI36
NG_041807.1:g.9918G>A
NG_053035.1:g.28301C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.438G>A MANE Select ENSP00000368007.4:p.Arg146=
ENST00000378733.8:c.438G>A ENSP00000368007.4:p.Arg146=
ENST00000425828.1:c.438G>A ENSP00000400311.1:p.Arg146=
NM_001114748.1:c.438G>A NP_001108220.1:p.Arg146=
NM_001114748.2:c.438G>A MANE Select NP_001108220.1:p.Arg146=
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