Canonical Allele Identifier: CA383545869

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1948016591
• gnomAD v3: 12-6329910-C-T
• gnomAD v4: 12-6329910-C-T
• MyVariant Identifiers: chr12:g.6439076C>T (hg19) ; chr12:g.6329910C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329910C>T , CM000674.2:g.6329910C>T	GRCh38
NC_000012.11:g.6439076C>T , CM000674.1:g.6439076C>T	GRCh37
NC_000012.10:g.6309337C>T	NCBI36
NG_007506.1:g.17186G>A , LRG_193:g.17186G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2026G>A
ENST00000437813.8:c.*386G>A	ENSP00000513672.1:n.*386G>A
ENST00000440083.7:c.1144G>A	ENSP00000413224.3:p.Ala382Thr
ENST00000535958.2:c.*752G>A	ENSP00000513673.1:n.*752G>A
ENST00000698337.1:n.886G>A
ENST00000698338.1:n.1539G>A
ENST00000698339.1:c.*420G>A	ENSP00000513670.1:n.*420G>A
ENST00000698340.1:c.*164G>A	ENSP00000513671.1:n.*164G>A
ENST00000162749.7:c.925G>A MANE Select	ENSP00000162749.2:p.Ala309Thr
ENST00000162749.6:c.925G>A	ENSP00000162749.2:p.Ala309Thr
ENST00000534885.5:c.*402G>A	ENSP00000441803.1:n.*402G>A
ENST00000536717.5:n.829G>A
ENST00000537842.5:n.373-11G>A
ENST00000540022.5:c.796G>A	ENSP00000438343.1:p.Ala266Thr
ENST00000543359.5:n.337G>A
ENST00000543995.5:c.*512G>A	ENSP00000442405.1:n.*512G>A
NM_001065.3:c.925G>A , LRG_193t1:c.925G>A	NP_001056.1:p.Ala309Thr
NM_001346091.1:c.601G>A	NP_001333020.1:p.Ala201Thr
NM_001346092.1:c.466G>A	NP_001333021.1:p.Ala156Thr
NR_144351.1:n.1154G>A
NM_001065.4:c.925G>A MANE Select	NP_001056.1:p.Ala309Thr
NM_001346091.2:c.601G>A	NP_001333020.1:p.Ala201Thr
NM_001346092.2:c.466G>A	NP_001333021.1:p.Ala156Thr
NR_144351.2:n.1113G>A