Canonical Allele Identifier: CA521010122

Gene: TMEM240

Linked Data

• dbSNP Id: rs1196448204
• gnomAD v2: 1-1471218-C-G
• gnomAD v3: 1-1535838-C-G
• gnomAD v4: 1-1535838-C-G
• MyVariant Identifiers: chr1:g.1471218C>G (hg19) ; chr1:g.1535838C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535838C>G , CM000663.2:g.1535838C>G	GRCh38
NC_000001.10:g.1471218C>G , CM000663.1:g.1471218C>G	GRCh37
NC_000001.9:g.1461081C>G	NCBI36
NG_041807.1:g.9523G>C
NG_053035.1:g.28696C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.165-41G>C MANE Select	ENSP00000368007.4:n.165-41G>C
ENST00000378733.8:c.165-41G>C	ENSP00000368007.4:n.165-41G>C
ENST00000425828.1:c.165-41G>C	ENSP00000400311.1:n.165-41G>C
NM_001114748.1:c.165-41G>C	NP_001108220.1:n.165-41G>C
NM_001114748.2:c.165-41G>C MANE Select	NP_001108220.1:n.165-41G>C