Canonical Allele Identifier: CA337865786
Gene: TMEM240 HGNC NCBI

Linked Data

gnomAD v4: 1-1535391-G-T
MyVariant Identifiers: chr1:g.1470771G>T (hg19) chr1:g.1535391G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535391G>T , CM000663.2:g.1535391G>T GRCh38
NC_000001.10:g.1470771G>T , CM000663.1:g.1470771G>T GRCh37
NC_000001.9:g.1460634G>T NCBI36
NG_041807.1:g.9970C>A
NG_053035.1:g.28249G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.490C>A MANE Select ENSP00000368007.4:p.His164Asn
ENST00000378733.8:c.490C>A ENSP00000368007.4:p.His164Asn
ENST00000425828.1:c.490C>A ENSP00000400311.1:p.His164Asn
NM_001114748.1:c.490C>A NP_001108220.1:p.His164Asn
NM_001114748.2:c.490C>A MANE Select NP_001108220.1:p.His164Asn
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