Canonical Allele Identifier: CA3243373

Gene: LIFR

Linked Data

• ClinVar Variation Id: 353637
• ClinVar RCV Id: RCV003362766
• dbSNP Id: rs373771721
• ExAC: 5:38530734 C / T
• gnomAD v2: 5-38530734-C-T
• gnomAD v3: 5-38530632-C-T
• gnomAD v4: 5-38530632-C-T
• COSMIC: COSM272153 ; COSM272154
• MyVariant Identifiers: chr5:g.38530734C>T (hg19) ; chr5:g.38530632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38530632C>T , CM000667.2:g.38530632C>T	GRCh38
NC_000005.9:g.38530734C>T , CM000667.1:g.38530734C>T	GRCh37
NC_000005.8:g.38566491C>T	NCBI36
NG_011817.1:g.69774G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453190.7:c.16G>A MANE Select	ENSP00000398368.2:p.Val6Ile
ENST00000263409.8:c.16G>A	ENSP00000263409.4:p.Val6Ile
ENST00000453190.6:c.16G>A	ENSP00000398368.2:p.Val6Ile
ENST00000503088.1:n.179G>A
ENST00000506990.5:c.16G>A	ENSP00000426685.1:p.Val6Ile
ENST00000511561.1:c.16G>A	ENSP00000427310.1:p.Val6Ile
ENST00000512723.1:n.286G>A
NM_001127671.1:c.16G>A	NP_001121143.1:p.Val6Ile
NM_002310.5:c.16G>A	NP_002301.1:p.Val6Ile
XM_011514040.1:c.16G>A	XP_011512342.1:p.Val6Ile
XM_011514041.1:c.16G>A	XP_011512343.1:p.Val6Ile
XM_011514042.1:c.16G>A	XP_011512344.1:p.Val6Ile
NM_001364297.1:c.16G>A	NP_001351226.1:p.Val6Ile
NM_001364298.1:c.16G>A	NP_001351227.1:p.Val6Ile
XM_011514042.3:c.16G>A	XP_011512344.1:p.Val6Ile
XM_017009462.1:c.70G>A	XP_016864951.1:p.Val24Ile
XM_017009463.1:c.16G>A	XP_016864952.1:p.Val6Ile
NM_001127671.2:c.16G>A MANE Select	NP_001121143.1:p.Val6Ile
NM_002310.6:c.16G>A	NP_002301.1:p.Val6Ile
NM_001364297.2:c.16G>A	NP_001351226.1:p.Val6Ile
NM_001364298.2:c.16G>A	NP_001351227.1:p.Val6Ile