Canonical Allele Identifier: CA10621816

Gene: LIFR

Linked Data

• ClinVar Variation Id: 353541
• ClinVar RCV Id: RCV000388923
• dbSNP Id: rs886060610
• MyVariant Identifiers: chr5:g.38476680T>C (hg19) ; chr5:g.38476578T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38476578T>C , CM000667.2:g.38476578T>C	GRCh38
NC_000005.9:g.38476680T>C , CM000667.1:g.38476680T>C	GRCh37
NC_000005.8:g.38512437T>C	NCBI36
NG_011817.1:g.123828A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453190.7:c.*5017A>G MANE Select	ENSP00000398368.2:n.*5017A>G
ENST00000263409.8:c.*5017A>G	ENSP00000263409.4:n.*5017A>G
NM_001127671.1:c.*5017A>G	NP_001121143.1:n.*5017A>G
NM_002310.5:c.*5017A>G	NP_002301.1:n.*5017A>G
XM_011514040.1:c.*5017A>G	XP_011512342.1:n.*5017A>G
XM_011514041.1:c.*5017A>G	XP_011512343.1:n.*5017A>G
XM_011514042.1:c.*5017A>G	XP_011512344.1:n.*5017A>G
NM_001364297.1:c.*5017A>G	NP_001351226.1:n.*5017A>G
NM_001364298.1:c.*5017A>G	NP_001351227.1:n.*5017A>G
XM_011514042.3:c.*5017A>G	XP_011512344.1:n.*5017A>G
XM_017009462.1:c.*5017A>G	XP_016864951.1:n.*5017A>G
XM_017009463.1:c.*5017A>G	XP_016864952.1:n.*5017A>G
NM_001127671.2:c.*5017A>G MANE Select	NP_001121143.1:n.*5017A>G
NM_002310.6:c.*5017A>G	NP_002301.1:n.*5017A>G
NM_001364297.2:c.*5017A>G	NP_001351226.1:n.*5017A>G
NM_001364298.2:c.*5017A>G	NP_001351227.1:n.*5017A>G