Canonical Allele Identifier: CA16796518
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs376080975
gnomAD v2: 1-1470667-C-T
gnomAD v3: 1-1535287-C-T
gnomAD v4: 1-1535287-C-T
MyVariant Identifiers: chr1:g.1470667C>T (hg19) chr1:g.1535287C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535287C>T , CM000663.2:g.1535287C>T GRCh38
NC_000001.10:g.1470667C>T , CM000663.1:g.1470667C>T GRCh37
NC_000001.9:g.1460530C>T NCBI36
NG_041807.1:g.10074G>A
NG_053035.1:g.28145C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.*72G>A MANE Select ENSP00000368007.4:n.*72G>A
ENST00000378733.8:c.*72G>A ENSP00000368007.4:n.*72G>A
ENST00000425828.1:c.*72G>A ENSP00000400311.1:n.*72G>A
NM_001114748.1:c.*72G>A NP_001108220.1:n.*72G>A
NM_001114748.2:c.*72G>A MANE Select NP_001108220.1:n.*72G>A
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