Canonical Allele Identifier: CA359533146

Gene: LIFR

Linked Data

• ClinVar Variation Id: 1948121
• ClinVar RCV Id: RCV002663831
• MyVariant Identifiers: chr5:g.38481737C>T (hg19) ; chr5:g.38481635C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38481635C>T , CM000667.2:g.38481635C>T	GRCh38
NC_000005.9:g.38481737C>T , CM000667.1:g.38481737C>T	GRCh37
NC_000005.8:g.38517494C>T	NCBI36
NG_011817.1:g.118771G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453190.7:c.3254G>A MANE Select	ENSP00000398368.2:p.Trp1085Ter
ENST00000263409.8:c.3254G>A	ENSP00000263409.4:p.Trp1085Ter
ENST00000453190.6:c.3254G>A	ENSP00000398368.2:p.Trp1085Ter
NM_001127671.1:c.3254G>A	NP_001121143.1:p.Trp1085Ter
NM_002310.5:c.3254G>A	NP_002301.1:p.Trp1085Ter
XM_011514040.1:c.3254G>A	XP_011512342.1:p.Trp1085Ter
XM_011514041.1:c.3254G>A	XP_011512343.1:p.Trp1085Ter
XM_011514042.1:c.3254G>A	XP_011512344.1:p.Trp1085Ter
NM_001364297.1:c.3254G>A	NP_001351226.1:p.Trp1085Ter
NM_001364298.1:c.3221G>A	NP_001351227.1:p.Trp1074Ter
XM_011514042.3:c.3254G>A	XP_011512344.1:p.Trp1085Ter
XM_017009462.1:c.3308G>A	XP_016864951.1:p.Trp1103Ter
XM_017009463.1:c.3254G>A	XP_016864952.1:p.Trp1085Ter
NM_001127671.2:c.3254G>A MANE Select	NP_001121143.1:p.Trp1085Ter
NM_002310.6:c.3254G>A	NP_002301.1:p.Trp1085Ter
NM_001364297.2:c.3254G>A	NP_001351226.1:p.Trp1085Ter
NM_001364298.2:c.3221G>A	NP_001351227.1:p.Trp1074Ter