Canonical Allele Identifier: CA410107175

Gene: IFNAR1

Linked Data

• MyVariant Identifiers: chr21:g.34715614T>G (hg19) ; chr21:g.33343308T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33343308T>G , CM000683.2:g.33343308T>G	GRCh38
NC_000021.8:g.34715614T>G , CM000683.1:g.34715614T>G	GRCh37
NC_000021.7:g.33637484T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442071.3:c.377-1938T>G	ENSP00000400161.3:n.377-1938T>G
ENST00000651609.2:c.*134T>G	ENSP00000498594.1:n.*134T>G
ENST00000652450.2:c.210T>G	ENSP00000498654.1:p.Asp70Glu
ENST00000652513.2:c.417T>G	ENSP00000498491.1:p.Asp139Glu
ENST00000652654.3:c.377-227T>G	ENSP00000498666.1:n.377-227T>G
ENST00000700045.1:n.544T>G
ENST00000700046.1:c.*4T>G	ENSP00000514762.1:n.*4T>G
ENST00000700080.1:c.210T>G	ENSP00000514785.1:p.Asp70Glu
ENST00000700084.1:c.-89-1938T>G	ENSP00000514786.1:n.-89-1938T>G
ENST00000700086.1:n.306T>G
ENST00000700087.1:n.538T>G
ENST00000700301.1:n.538T>G
ENST00000703514.1:c.417T>G	ENSP00000515347.1:p.Asp139Glu
ENST00000703515.1:c.417T>G	ENSP00000515348.1:p.Asp139Glu
ENST00000703516.1:c.201-1938T>G	ENSP00000515349.1:n.201-1938T>G
ENST00000703556.1:c.417T>G	ENSP00000515372.1:p.Asp139Glu
ENST00000703557.1:c.417T>G	ENSP00000515373.1:p.Asp139Glu
ENST00000703561.1:c.417T>G	ENSP00000515377.1:p.Asp139Glu
ENST00000703562.1:c.417T>G	ENSP00000515378.1:p.Asp139Glu
ENST00000703563.1:c.*4T>G	ENSP00000515379.1:n.*4T>G
ENST00000703564.1:c.*134T>G	ENSP00000515380.1:n.*134T>G
ENST00000703565.1:c.417T>G	ENSP00000515381.1:p.Asp139Glu
ENST00000703778.1:n.423-227T>G
ENST00000703779.1:c.*4T>G	ENSP00000515477.1:n.*4T>G
ENST00000270139.8:c.417T>G MANE Select	ENSP00000270139.3:p.Asp139Glu
ENST00000442071.2:c.377-1938T>G	ENSP00000400161.2:n.377-1938T>G
ENST00000651609.1:c.*134T>G	ENSP00000498594.1:n.*134T>G
ENST00000652450.1:c.210T>G	ENSP00000498654.1:p.Asp70Glu
ENST00000652513.1:c.417T>G	ENSP00000498491.1:p.Asp139Glu
ENST00000652601.1:c.417T>G	ENSP00000498231.1:p.Asp139Glu
ENST00000652654.1:c.377-227T>G	ENSP00000498666.1:n.377-227T>G
ENST00000270139.7:c.417T>G	ENSP00000270139.3:p.Asp139Glu
ENST00000442071.1:c.377-1938T>G	ENSP00000400161.1:n.377-1938T>G
NM_000629.2:c.417T>G	NP_000620.2:p.Asp139Glu
XM_005260964.1:c.210T>G	XP_005261021.1:p.Asp70Glu
XM_011529552.1:c.417T>G	XP_011527854.1:p.Asp139Glu
XM_005260964.2:c.210T>G	XP_005261021.1:p.Asp70Glu
XM_011529552.2:c.417T>G	XP_011527854.1:p.Asp139Glu
NM_000629.3:c.417T>G MANE Select	NP_000620.2:p.Asp139Glu
NM_001384498.1:c.417T>G	NP_001371427.1:p.Asp139Glu
NM_001384499.1:c.417T>G	NP_001371428.1:p.Asp139Glu
NM_001384500.1:c.-370T>G	NP_001371429.1:n.-370T>G
NM_001384501.1:c.417T>G	NP_001371430.1:p.Asp139Glu
NM_001384502.1:c.-46T>G	NP_001371431.1:n.-46T>G
NM_001384503.1:c.417T>G	NP_001371432.1:p.Asp139Glu
NM_001384504.1:c.210T>G	NP_001371433.1:p.Asp70Glu