Canonical Allele Identifier: CA10621820
Gene: LIFR HGNC NCBI

Linked Data

ClinVar Variation Id: 353551
ClinVar RCV Id: RCV000303355
dbSNP Id: rs542094343
gnomAD v2: 5-38477283-C-T
gnomAD v3: 5-38477181-C-T
gnomAD v4: 5-38477181-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.38477181C>T , CM000667.2:g.38477181C>T GRCh38
NC_000005.9:g.38477283C>T , CM000667.1:g.38477283C>T GRCh37
NC_000005.8:g.38513040C>T NCBI36
NG_011817.1:g.123225G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000453190.7:c.*4414G>A MANE Select ENSP00000398368.2:n.*4414G>A
ENST00000263409.8:c.*4414G>A ENSP00000263409.4:n.*4414G>A
NM_001127671.1:c.*4414G>A NP_001121143.1:n.*4414G>A
NM_002310.5:c.*4414G>A NP_002301.1:n.*4414G>A
XM_011514040.1:c.*4414G>A XP_011512342.1:n.*4414G>A
XM_011514041.1:c.*4414G>A XP_011512343.1:n.*4414G>A
XM_011514042.1:c.*4414G>A XP_011512344.1:n.*4414G>A
NM_001364297.1:c.*4414G>A NP_001351226.1:n.*4414G>A
NM_001364298.1:c.*4414G>A NP_001351227.1:n.*4414G>A
XM_011514042.3:c.*4414G>A XP_011512344.1:n.*4414G>A
XM_017009462.1:c.*4414G>A XP_016864951.1:n.*4414G>A
XM_017009463.1:c.*4414G>A XP_016864952.1:n.*4414G>A
NM_001127671.2:c.*4414G>A MANE Select NP_001121143.1:n.*4414G>A
NM_002310.6:c.*4414G>A NP_002301.1:n.*4414G>A
NM_001364297.2:c.*4414G>A NP_001351226.1:n.*4414G>A
NM_001364298.2:c.*4414G>A NP_001351227.1:n.*4414G>A