Canonical Allele Identifier: CA2673628813
Gene: LIFR HGNC NCBI

Linked Data

gnomAD v4: 5-38496336-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.38496336A>C , CM000667.2:g.38496336A>C GRCh38
NC_000005.9:g.38496438A>C , CM000667.1:g.38496438A>C GRCh37
NC_000005.8:g.38532195A>C NCBI36
NG_011817.1:g.104070T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000453190.7:c.1885+46T>G MANE Select ENSP00000398368.2:n.1885+46T>G
ENST00000263409.8:c.1885+46T>G ENSP00000263409.4:n.1885+46T>G
ENST00000453190.6:c.1885+46T>G ENSP00000398368.2:n.1885+46T>G
ENST00000503088.1:n.2048+46T>G
ENST00000506003.5:c.263+46T>G
NM_001127671.1:c.1885+46T>G NP_001121143.1:n.1885+46T>G
NM_002310.5:c.1885+46T>G NP_002301.1:n.1885+46T>G
XM_011514040.1:c.1885+46T>G XP_011512342.1:n.1885+46T>G
XM_011514041.1:c.1885+46T>G XP_011512343.1:n.1885+46T>G
XM_011514042.1:c.1885+46T>G XP_011512344.1:n.1885+46T>G
NM_001364297.1:c.1885+46T>G NP_001351226.1:n.1885+46T>G
NM_001364298.1:c.1885+46T>G NP_001351227.1:n.1885+46T>G
XM_011514042.3:c.1885+46T>G XP_011512344.1:n.1885+46T>G
XM_017009462.1:c.1939+46T>G XP_016864951.1:n.1939+46T>G
XM_017009463.1:c.1885+46T>G XP_016864952.1:n.1885+46T>G
NM_001127671.2:c.1885+46T>G MANE Select NP_001121143.1:n.1885+46T>G
NM_002310.6:c.1885+46T>G NP_002301.1:n.1885+46T>G
NM_001364297.2:c.1885+46T>G NP_001351226.1:n.1885+46T>G
NM_001364298.2:c.1885+46T>G NP_001351227.1:n.1885+46T>G