Canonical Allele Identifier: CA415768623
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs1464779610
gnomAD v2: 1-1471030-C-T
gnomAD v3: 1-1535650-C-T
gnomAD v4: 1-1535650-C-T
MyVariant Identifiers: chr1:g.1471030C>T (hg19) chr1:g.1535650C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535650C>T , CM000663.2:g.1535650C>T GRCh38
NC_000001.10:g.1471030C>T , CM000663.1:g.1471030C>T GRCh37
NC_000001.9:g.1460893C>T NCBI36
NG_041807.1:g.9711G>A
NG_053035.1:g.28508C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.312G>A MANE Select ENSP00000368007.4:p.Leu104=
ENST00000378733.8:c.312G>A ENSP00000368007.4:p.Leu104=
ENST00000425828.1:c.312G>A ENSP00000400311.1:p.Leu104=
NM_001114748.1:c.312G>A NP_001108220.1:p.Leu104=
NM_001114748.2:c.312G>A MANE Select NP_001108220.1:p.Leu104=
Search 100 bp 5'
Search 100 bp 3'