Canonical Allele Identifier: CA521010119
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs1295055439
gnomAD v2: 1-1471210-C-T
gnomAD v3: 1-1535830-C-T
gnomAD v4: 1-1535830-C-T
MyVariant Identifiers: chr1:g.1471210C>T (hg19) chr1:g.1535830C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535830C>T , CM000663.2:g.1535830C>T GRCh38
NC_000001.10:g.1471210C>T , CM000663.1:g.1471210C>T GRCh37
NC_000001.9:g.1461073C>T NCBI36
NG_041807.1:g.9531G>A
NG_053035.1:g.28688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.165-33G>A MANE Select ENSP00000368007.4:n.165-33G>A
ENST00000378733.8:c.165-33G>A ENSP00000368007.4:n.165-33G>A
ENST00000425828.1:c.165-33G>A ENSP00000400311.1:n.165-33G>A
NM_001114748.1:c.165-33G>A NP_001108220.1:n.165-33G>A
NM_001114748.2:c.165-33G>A MANE Select NP_001108220.1:n.165-33G>A
Search 100 bp 5'
Search 100 bp 3'