Canonical Allele Identifier: CA526699

Gene: TMEM240

Linked Data

• ClinVar Variation Id: 724660
• ClinVar RCV Id: RCV000898612
• dbSNP Id: rs376624221
• ExAC: 1:1471162 G / A
• gnomAD v2: 1-1471162-G-A
• gnomAD v3: 1-1535782-G-A
• gnomAD v4: 1-1535782-G-A
• MyVariant Identifiers: chr1:g.1471162G>A (hg19) ; chr1:g.1535782G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535782G>A , CM000663.2:g.1535782G>A	GRCh38
NC_000001.10:g.1471162G>A , CM000663.1:g.1471162G>A	GRCh37
NC_000001.9:g.1461025G>A	NCBI36
NG_041807.1:g.9579C>T
NG_053035.1:g.28640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.180C>T MANE Select	ENSP00000368007.4:p.Tyr60=
ENST00000378733.8:c.180C>T	ENSP00000368007.4:p.Tyr60=
ENST00000425828.1:c.180C>T	ENSP00000400311.1:p.Tyr60=
NM_001114748.1:c.180C>T	NP_001108220.1:p.Tyr60=
NM_001114748.2:c.180C>T MANE Select	NP_001108220.1:p.Tyr60=