Canonical Allele Identifier: CA359535880

Gene: LIFR

Linked Data

• dbSNP Id: rs1474505749
• gnomAD v2: 5-38485921-A-T
• gnomAD v4: 5-38485819-A-T
• MyVariant Identifiers: chr5:g.38485921A>T (hg19) ; chr5:g.38485819A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38485819A>T , CM000667.2:g.38485819A>T	GRCh38
NC_000005.9:g.38485921A>T , CM000667.1:g.38485921A>T	GRCh37
NC_000005.8:g.38521678A>T	NCBI36
NG_011817.1:g.114587T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453190.7:c.2497T>A MANE Select	ENSP00000398368.2:p.Ser833Thr
ENST00000263409.8:c.2497T>A	ENSP00000263409.4:p.Ser833Thr
ENST00000453190.6:c.2497T>A	ENSP00000398368.2:p.Ser833Thr
ENST00000508477.5:n.330T>A
NM_001127671.1:c.2497T>A	NP_001121143.1:p.Ser833Thr
NM_002310.5:c.2497T>A	NP_002301.1:p.Ser833Thr
XM_011514040.1:c.2497T>A	XP_011512342.1:p.Ser833Thr
XM_011514041.1:c.2497T>A	XP_011512343.1:p.Ser833Thr
XM_011514042.1:c.2497T>A	XP_011512344.1:p.Ser833Thr
NM_001364297.1:c.2497T>A	NP_001351226.1:p.Ser833Thr
NM_001364298.1:c.2497T>A	NP_001351227.1:p.Leu833Met
XM_011514042.3:c.2497T>A	XP_011512344.1:p.Ser833Thr
XM_017009462.1:c.2551T>A	XP_016864951.1:p.Ser851Thr
XM_017009463.1:c.2497T>A	XP_016864952.1:p.Ser833Thr
NM_001127671.2:c.2497T>A MANE Select	NP_001121143.1:p.Ser833Thr
NM_002310.6:c.2497T>A	NP_002301.1:p.Ser833Thr
NM_001364297.2:c.2497T>A	NP_001351226.1:p.Ser833Thr
NM_001364298.2:c.2497T>A	NP_001351227.1:p.Leu833Met