Canonical Allele Identifier: CA337866730
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs376390462
gnomAD v2: 1-1471046-C-G
gnomAD v4: 1-1535666-C-G
MyVariant Identifiers: chr1:g.1471046C>G (hg19) chr1:g.1535666C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535666C>G , CM000663.2:g.1535666C>G GRCh38
NC_000001.10:g.1471046C>G , CM000663.1:g.1471046C>G GRCh37
NC_000001.9:g.1460909C>G NCBI36
NG_041807.1:g.9695G>C
NG_053035.1:g.28524C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378733.9:c.296G>C MANE Select ENSP00000368007.4:p.Cys99Ser
ENST00000378733.8:c.296G>C ENSP00000368007.4:p.Cys99Ser
ENST00000425828.1:c.296G>C ENSP00000400311.1:p.Cys99Ser
NM_001114748.1:c.296G>C NP_001108220.1:p.Cys99Ser
NM_001114748.2:c.296G>C MANE Select NP_001108220.1:p.Cys99Ser
Search 100 bp 5'
Search 100 bp 3'