Canonical Allele Identifier: CA3242817

Gene: LIFR

Linked Data

• dbSNP Id: rs765631687
• ExAC: 5:38496434 T / C
• gnomAD v2: 5-38496434-T-C
• gnomAD v4: 5-38496332-T-C
• MyVariant Identifiers: chr5:g.38496434T>C (hg19) ; chr5:g.38496332T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38496332T>C , CM000667.2:g.38496332T>C	GRCh38
NC_000005.9:g.38496434T>C , CM000667.1:g.38496434T>C	GRCh37
NC_000005.8:g.38532191T>C	NCBI36
NG_011817.1:g.104074A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453190.7:c.1885+50A>G MANE Select	ENSP00000398368.2:n.1885+50A>G
ENST00000263409.8:c.1885+50A>G	ENSP00000263409.4:n.1885+50A>G
ENST00000453190.6:c.1885+50A>G	ENSP00000398368.2:n.1885+50A>G
ENST00000503088.1:n.2048+50A>G
ENST00000506003.5:c.263+50A>G
NM_001127671.1:c.1885+50A>G	NP_001121143.1:n.1885+50A>G
NM_002310.5:c.1885+50A>G	NP_002301.1:n.1885+50A>G
XM_011514040.1:c.1885+50A>G	XP_011512342.1:n.1885+50A>G
XM_011514041.1:c.1885+50A>G	XP_011512343.1:n.1885+50A>G
XM_011514042.1:c.1885+50A>G	XP_011512344.1:n.1885+50A>G
NM_001364297.1:c.1885+50A>G	NP_001351226.1:n.1885+50A>G
NM_001364298.1:c.1885+50A>G	NP_001351227.1:n.1885+50A>G
XM_011514042.3:c.1885+50A>G	XP_011512344.1:n.1885+50A>G
XM_017009462.1:c.1939+50A>G	XP_016864951.1:n.1939+50A>G
XM_017009463.1:c.1885+50A>G	XP_016864952.1:n.1885+50A>G
NM_001127671.2:c.1885+50A>G MANE Select	NP_001121143.1:n.1885+50A>G
NM_002310.6:c.1885+50A>G	NP_002301.1:n.1885+50A>G
NM_001364297.2:c.1885+50A>G	NP_001351226.1:n.1885+50A>G
NM_001364298.2:c.1885+50A>G	NP_001351227.1:n.1885+50A>G