Canonical Allele Identifier: CA410107127

Gene: IFNAR1

Linked Data

• MyVariant Identifiers: chr21:g.34715602A>C (hg19) ; chr21:g.33343296A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33343296A>C , CM000683.2:g.33343296A>C	GRCh38
NC_000021.8:g.34715602A>C , CM000683.1:g.34715602A>C	GRCh37
NC_000021.7:g.33637472A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442071.3:c.377-1950A>C	ENSP00000400161.3:n.377-1950A>C
ENST00000651609.2:c.*122A>C	ENSP00000498594.1:n.*122A>C
ENST00000652450.2:c.198A>C	ENSP00000498654.1:p.Leu66Phe
ENST00000652513.2:c.405A>C	ENSP00000498491.1:p.Leu135Phe
ENST00000652654.3:c.377-239A>C	ENSP00000498666.1:n.377-239A>C
ENST00000700045.1:n.532A>C
ENST00000700046.1:c.229A>C	ENSP00000514762.1:p.Arg77=
ENST00000700080.1:c.198A>C	ENSP00000514785.1:p.Leu66Phe
ENST00000700084.1:c.-89-1950A>C	ENSP00000514786.1:n.-89-1950A>C
ENST00000700086.1:n.294A>C
ENST00000700087.1:n.526A>C
ENST00000700301.1:n.526A>C
ENST00000703514.1:c.405A>C	ENSP00000515347.1:p.Leu135Phe
ENST00000703515.1:c.405A>C	ENSP00000515348.1:p.Leu135Phe
ENST00000703516.1:c.201-1950A>C	ENSP00000515349.1:n.201-1950A>C
ENST00000703556.1:c.405A>C	ENSP00000515372.1:p.Leu135Phe
ENST00000703557.1:c.405A>C	ENSP00000515373.1:p.Leu135Phe
ENST00000703561.1:c.405A>C	ENSP00000515377.1:p.Leu135Phe
ENST00000703562.1:c.405A>C	ENSP00000515378.1:p.Leu135Phe
ENST00000703563.1:c.400A>C	ENSP00000515379.1:p.Arg134=
ENST00000703564.1:c.*122A>C	ENSP00000515380.1:n.*122A>C
ENST00000703565.1:c.405A>C	ENSP00000515381.1:p.Leu135Phe
ENST00000703778.1:n.423-239A>C
ENST00000703779.1:c.229A>C	ENSP00000515477.1:p.Arg77=
ENST00000270139.8:c.405A>C MANE Select	ENSP00000270139.3:p.Leu135Phe
ENST00000442071.2:c.377-1950A>C	ENSP00000400161.2:n.377-1950A>C
ENST00000651609.1:c.*122A>C	ENSP00000498594.1:n.*122A>C
ENST00000652450.1:c.198A>C	ENSP00000498654.1:p.Leu66Phe
ENST00000652513.1:c.405A>C	ENSP00000498491.1:p.Leu135Phe
ENST00000652601.1:c.405A>C	ENSP00000498231.1:p.Leu135Phe
ENST00000652654.1:c.377-239A>C	ENSP00000498666.1:n.377-239A>C
ENST00000270139.7:c.405A>C	ENSP00000270139.3:p.Leu135Phe
ENST00000442071.1:c.377-1950A>C	ENSP00000400161.1:n.377-1950A>C
NM_000629.2:c.405A>C	NP_000620.2:p.Leu135Phe
XM_005260964.1:c.198A>C	XP_005261021.1:p.Leu66Phe
XM_011529552.1:c.405A>C	XP_011527854.1:p.Leu135Phe
XM_005260964.2:c.198A>C	XP_005261021.1:p.Leu66Phe
XM_011529552.2:c.405A>C	XP_011527854.1:p.Leu135Phe
NM_000629.3:c.405A>C MANE Select	NP_000620.2:p.Leu135Phe
NM_001384498.1:c.405A>C	NP_001371427.1:p.Leu135Phe
NM_001384499.1:c.405A>C	NP_001371428.1:p.Leu135Phe
NM_001384500.1:c.-382A>C	NP_001371429.1:n.-382A>C
NM_001384501.1:c.405A>C	NP_001371430.1:p.Leu135Phe
NM_001384502.1:c.-58A>C	NP_001371431.1:n.-58A>C
NM_001384503.1:c.405A>C	NP_001371432.1:p.Leu135Phe
NM_001384504.1:c.198A>C	NP_001371433.1:p.Leu66Phe