Canonical Allele Identifier: CA337866480
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs1334324783
gnomAD v4: 1-1535626-G-T
MyVariant Identifiers: chr1:g.1471006G>T (hg19) chr1:g.1535626G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535626G>T , CM000663.2:g.1535626G>T GRCh38
NC_000001.10:g.1471006G>T , CM000663.1:g.1471006G>T GRCh37
NC_000001.9:g.1460869G>T NCBI36
NG_041807.1:g.9735C>A
NG_053035.1:g.28484G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.336C>A MANE Select ENSP00000368007.4:p.His112Gln
ENST00000378733.8:c.336C>A ENSP00000368007.4:p.His112Gln
ENST00000425828.1:c.336C>A ENSP00000400311.1:p.His112Gln
NM_001114748.1:c.336C>A NP_001108220.1:p.His112Gln
NM_001114748.2:c.336C>A MANE Select NP_001108220.1:p.His112Gln
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