Canonical Allele Identifier: CA526689

Gene: TMEM240

Linked Data

• ClinVar Variation Id: 727922
• ClinVar RCV Id: RCV000902323 ; RCV003950594
• dbSNP Id: rs371009717
• ExAC: 1:1471102 C / T
• gnomAD v2: 1-1471102-C-T
• gnomAD v3: 1-1535722-C-T
• gnomAD v4: 1-1535722-C-T
• MyVariant Identifiers: chr1:g.1471102C>T (hg19) ; chr1:g.1535722C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535722C>T , CM000663.2:g.1535722C>T	GRCh38
NC_000001.10:g.1471102C>T , CM000663.1:g.1471102C>T	GRCh37
NC_000001.9:g.1460965C>T	NCBI36
NG_041807.1:g.9639G>A
NG_053035.1:g.28580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.240G>A MANE Select	ENSP00000368007.4:p.Thr80=
ENST00000378733.8:c.240G>A	ENSP00000368007.4:p.Thr80=
ENST00000425828.1:c.240G>A	ENSP00000400311.1:p.Thr80=
NM_001114748.1:c.240G>A	NP_001108220.1:p.Thr80=
NM_001114748.2:c.240G>A MANE Select	NP_001108220.1:p.Thr80=