Canonical Allele Identifier: CA3242843
Gene: LIFR HGNC NCBI

Linked Data

ClinVar Variation Id: 353624
ClinVar RCV Id: RCV000380495
dbSNP Id: rs754527323

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.38496511C>A , CM000667.2:g.38496511C>A GRCh38
NC_000005.9:g.38496613C>A , CM000667.1:g.38496613C>A GRCh37
NC_000005.8:g.38532370C>A NCBI36
NG_011817.1:g.103895G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000453190.7:c.1756G>T MANE Select ENSP00000398368.2:p.Glu586Ter
ENST00000263409.8:c.1756G>T ENSP00000263409.4:p.Glu586Ter
ENST00000453190.6:c.1756G>T ENSP00000398368.2:p.Glu586Ter
ENST00000503088.1:n.1919G>T
ENST00000506003.5:n.134G>T
NM_001127671.1:c.1756G>T NP_001121143.1:p.Glu586Ter
NM_002310.5:c.1756G>T NP_002301.1:p.Glu586Ter
XM_011514040.1:c.1756G>T XP_011512342.1:p.Glu586Ter
XM_011514041.1:c.1756G>T XP_011512343.1:p.Glu586Ter
XM_011514042.1:c.1756G>T XP_011512344.1:p.Glu586Ter
NM_001364297.1:c.1756G>T NP_001351226.1:p.Glu586Ter
NM_001364298.1:c.1756G>T NP_001351227.1:p.Glu586Ter
XM_011514042.3:c.1756G>T XP_011512344.1:p.Glu586Ter
XM_017009462.1:c.1810G>T XP_016864951.1:p.Glu604Ter
XM_017009463.1:c.1756G>T XP_016864952.1:p.Glu586Ter
NM_001127671.2:c.1756G>T MANE Select NP_001121143.1:p.Glu586Ter
NM_002310.6:c.1756G>T NP_002301.1:p.Glu586Ter
NM_001364297.2:c.1756G>T NP_001351226.1:p.Glu586Ter
NM_001364298.2:c.1756G>T NP_001351227.1:p.Glu586Ter