Canonical Allele Identifier: CA6405439

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 701893
• ClinVar RCV Id: RCV000870618 ; RCV001569617
• dbSNP Id: rs200415260
• ExAC: 12:6439909 C / A
• gnomAD v2: 12-6439909-C-A
• gnomAD v3: 12-6330743-C-A
• gnomAD v4: 12-6330743-C-A
• MyVariant Identifiers: chr12:g.6439909C>A (hg19) ; chr12:g.6330743C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330743C>A , CM000674.2:g.6330743C>A	GRCh38
NC_000012.11:g.6439909C>A , CM000674.1:g.6439909C>A	GRCh37
NC_000012.10:g.6310170C>A	NCBI36
NG_007506.1:g.16353G>T , LRG_193:g.16353G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1727-32G>T
ENST00000437813.8:c.*87-32G>T	ENSP00000513672.1:n.*87-32G>T
ENST00000440083.7:c.845-32G>T	ENSP00000413224.3:n.845-32G>T
ENST00000535038.2:n.808-32G>T
ENST00000535958.2:c.*453-32G>T	ENSP00000513673.1:n.*453-32G>T
ENST00000698337.1:n.584G>T
ENST00000698338.1:n.1008G>T
ENST00000698339.1:c.*121-32G>T	ENSP00000513670.1:n.*121-32G>T
ENST00000698340.1:c.552-32G>T	ENSP00000513671.1:n.552-32G>T
ENST00000162749.7:c.626-32G>T MANE Select	ENSP00000162749.2:n.626-32G>T
ENST00000162749.6:c.626-32G>T	ENSP00000162749.2:n.626-32G>T
ENST00000534885.5:c.*103-32G>T	ENSP00000441803.1:n.*103-32G>T
ENST00000535038.1:n.405G>T
ENST00000536717.5:n.530-32G>T
ENST00000537842.5:n.230-32G>T
ENST00000539372.5:c.626-32G>T	ENSP00000442059.1:n.626-32G>T
ENST00000540022.5:c.497-32G>T	ENSP00000438343.1:n.497-32G>T
ENST00000543359.5:n.38-32G>T
ENST00000543995.5:c.*213-32G>T	ENSP00000442405.1:n.*213-32G>T
NM_001065.3:c.626-32G>T , LRG_193t1:c.626-32G>T	NP_001056.1:n.626-32G>T
NM_001346091.1:c.302-32G>T	NP_001333020.1:n.302-32G>T
NM_001346092.1:c.167-32G>T	NP_001333021.1:n.167-32G>T
NR_144351.1:n.855-32G>T
NM_001065.4:c.626-32G>T MANE Select	NP_001056.1:n.626-32G>T
NM_001346091.2:c.302-32G>T	NP_001333020.1:n.302-32G>T
NM_001346092.2:c.167-32G>T	NP_001333021.1:n.167-32G>T
NR_144351.2:n.814-32G>T