Canonical Allele Identifier: CA337865801
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs1314160027
gnomAD v2: 1-1470776-A-T
gnomAD v4: 1-1535396-A-T
MyVariant Identifiers: chr1:g.1470776A>T (hg19) chr1:g.1535396A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535396A>T , CM000663.2:g.1535396A>T GRCh38
NC_000001.10:g.1470776A>T , CM000663.1:g.1470776A>T GRCh37
NC_000001.9:g.1460639A>T NCBI36
NG_041807.1:g.9965T>A
NG_053035.1:g.28254A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.485T>A MANE Select ENSP00000368007.4:p.Leu162His
ENST00000378733.8:c.485T>A ENSP00000368007.4:p.Leu162His
ENST00000425828.1:c.485T>A ENSP00000400311.1:p.Leu162His
NM_001114748.1:c.485T>A NP_001108220.1:p.Leu162His
NM_001114748.2:c.485T>A MANE Select NP_001108220.1:p.Leu162His
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