Canonical Allele Identifier: CA526618
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs1485911867
ExAC: 1:1470711 C / A
gnomAD v2: 1-1470711-C-A
gnomAD v4: 1-1535331-C-A
MyVariant Identifiers: chr1:g.1470711C>A (hg19) chr1:g.1470711_1470714delinsAGGT (hg19) chr1:g.1535331C>A (hg38) chr1:g.1535331_1535334delinsAGGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535331C>A , CM000663.2:g.1535331C>A GRCh38
NC_000001.10:g.1470711C>A , CM000663.1:g.1470711C>A GRCh37
NC_000001.9:g.1460574C>A NCBI36
NG_041807.1:g.10030G>T
NG_053035.1:g.28189C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.*28G>T MANE Select ENSP00000368007.4:n.*28G>T
ENST00000378733.8:c.*28G>T ENSP00000368007.4:n.*28G>T
ENST00000425828.1:c.*28G>T ENSP00000400311.1:n.*28G>T
NM_001114748.1:c.*28G>T NP_001108220.1:n.*28G>T
NM_001114748.2:c.*28G>T MANE Select NP_001108220.1:n.*28G>T
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