Canonical Allele Identifier: CA3242515

Gene: LIFR

Linked Data

• ClinVar Variation Id: 763325
• ClinVar RCV Id: RCV000941552 ; RCV001151741
• dbSNP Id: rs537706381
• ExAC: 5:38481931 C / T
• gnomAD v2: 5-38481931-C-T
• gnomAD v3: 5-38481829-C-T
• gnomAD v4: 5-38481829-C-T
• MyVariant Identifiers: chr5:g.38481931C>T (hg19) ; chr5:g.38481829C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38481829C>T , CM000667.2:g.38481829C>T	GRCh38
NC_000005.9:g.38481931C>T , CM000667.1:g.38481931C>T	GRCh37
NC_000005.8:g.38517688C>T	NCBI36
NG_011817.1:g.118577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453190.7:c.3060G>A MANE Select	ENSP00000398368.2:p.Glu1020=
ENST00000263409.8:c.3060G>A	ENSP00000263409.4:p.Glu1020=
ENST00000453190.6:c.3060G>A	ENSP00000398368.2:p.Glu1020=
NM_001127671.1:c.3060G>A	NP_001121143.1:p.Glu1020=
NM_002310.5:c.3060G>A	NP_002301.1:p.Glu1020=
XM_011514040.1:c.3060G>A	XP_011512342.1:p.Glu1020=
XM_011514041.1:c.3060G>A	XP_011512343.1:p.Glu1020=
XM_011514042.1:c.3060G>A	XP_011512344.1:p.Glu1020=
NM_001364297.1:c.3060G>A	NP_001351226.1:p.Glu1020=
NM_001364298.1:c.3027G>A	NP_001351227.1:p.Glu1009=
XM_011514042.3:c.3060G>A	XP_011512344.1:p.Glu1020=
XM_017009462.1:c.3114G>A	XP_016864951.1:p.Glu1038=
XM_017009463.1:c.3060G>A	XP_016864952.1:p.Glu1020=
NM_001127671.2:c.3060G>A MANE Select	NP_001121143.1:p.Glu1020=
NM_002310.6:c.3060G>A	NP_002301.1:p.Glu1020=
NM_001364297.2:c.3060G>A	NP_001351226.1:p.Glu1020=
NM_001364298.2:c.3027G>A	NP_001351227.1:p.Glu1009=