Canonical Allele Identifier: CA889464289
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs971093249
gnomAD v4: 1-1535257-A-C
MyVariant Identifiers: chr1:g.1470637A>C (hg19) chr1:g.1535257A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535257A>C , CM000663.2:g.1535257A>C GRCh38
NC_000001.10:g.1470637A>C , CM000663.1:g.1470637A>C GRCh37
NC_000001.9:g.1460500A>C NCBI36
NG_041807.1:g.10104T>G
NG_053035.1:g.28115A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.*102T>G MANE Select ENSP00000368007.4:n.*102T>G
ENST00000378733.8:c.*102T>G ENSP00000368007.4:n.*102T>G
ENST00000425828.1:c.*102T>G ENSP00000400311.1:n.*102T>G
NM_001114748.1:c.*102T>G NP_001108220.1:n.*102T>G
NM_001114748.2:c.*102T>G MANE Select NP_001108220.1:n.*102T>G
Search 100 bp 5'
Search 100 bp 3'