Canonical Allele Identifier: CA383545634

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6329808-C-T
• MyVariant Identifiers: chr12:g.6438974C>T (hg19) ; chr12:g.6329808C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329808C>T , CM000674.2:g.6329808C>T	GRCh38
NC_000012.11:g.6438974C>T , CM000674.1:g.6438974C>T	GRCh37
NC_000012.10:g.6309235C>T	NCBI36
NG_007506.1:g.17288G>A , LRG_193:g.17288G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2128G>A
ENST00000437813.8:c.*488G>A	ENSP00000513672.1:n.*488G>A
ENST00000440083.7:c.1246G>A	ENSP00000413224.3:p.Asp416Asn
ENST00000535958.2:c.*854G>A	ENSP00000513673.1:n.*854G>A
ENST00000698337.1:n.988G>A
ENST00000698338.1:n.1641G>A
ENST00000698339.1:c.*522G>A	ENSP00000513670.1:n.*522G>A
ENST00000698340.1:c.*266G>A	ENSP00000513671.1:n.*266G>A
ENST00000162749.7:c.1027G>A MANE Select	ENSP00000162749.2:p.Asp343Asn
ENST00000162749.6:c.1027G>A	ENSP00000162749.2:p.Asp343Asn
ENST00000534885.5:c.*504G>A	ENSP00000441803.1:n.*504G>A
ENST00000536717.5:n.931G>A
ENST00000540022.5:c.898G>A	ENSP00000438343.1:p.Asp300Asn
ENST00000543359.5:n.439G>A
ENST00000543995.5:c.*614G>A	ENSP00000442405.1:n.*614G>A
NM_001065.3:c.1027G>A , LRG_193t1:c.1027G>A	NP_001056.1:p.Asp343Asn
NM_001346091.1:c.703G>A	NP_001333020.1:p.Asp235Asn
NM_001346092.1:c.568G>A	NP_001333021.1:p.Asp190Asn
NR_144351.1:n.1256G>A
NM_001065.4:c.1027G>A MANE Select	NP_001056.1:p.Asp343Asn
NM_001346091.2:c.703G>A	NP_001333020.1:p.Asp235Asn
NM_001346092.2:c.568G>A	NP_001333021.1:p.Asp190Asn
NR_144351.2:n.1215G>A