Canonical Allele Identifier: CA359533507

Gene: LIFR

Linked Data

• ClinVar Variation Id: 981877
• ClinVar RCV Id: RCV001374567 ; RCV002537619
• dbSNP Id: rs1439167190
• gnomAD v2: 5-38481902-G-A
• gnomAD v3: 5-38481800-G-A
• gnomAD v4: 5-38481800-G-A
• MyVariant Identifiers: chr5:g.38481902G>A (hg19) ; chr5:g.38481800G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38481800G>A , CM000667.2:g.38481800G>A	GRCh38
NC_000005.9:g.38481902G>A , CM000667.1:g.38481902G>A	GRCh37
NC_000005.8:g.38517659G>A	NCBI36
NG_011817.1:g.118606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453190.7:c.3089C>T MANE Select	ENSP00000398368.2:p.Pro1030Leu
ENST00000263409.8:c.3089C>T	ENSP00000263409.4:p.Pro1030Leu
ENST00000453190.6:c.3089C>T	ENSP00000398368.2:p.Pro1030Leu
NM_001127671.1:c.3089C>T	NP_001121143.1:p.Pro1030Leu
NM_002310.5:c.3089C>T	NP_002301.1:p.Pro1030Leu
XM_011514040.1:c.3089C>T	XP_011512342.1:p.Pro1030Leu
XM_011514041.1:c.3089C>T	XP_011512343.1:p.Pro1030Leu
XM_011514042.1:c.3089C>T	XP_011512344.1:p.Pro1030Leu
NM_001364297.1:c.3089C>T	NP_001351226.1:p.Pro1030Leu
NM_001364298.1:c.3056C>T	NP_001351227.1:p.Pro1019Leu
XM_011514042.3:c.3089C>T	XP_011512344.1:p.Pro1030Leu
XM_017009462.1:c.3143C>T	XP_016864951.1:p.Pro1048Leu
XM_017009463.1:c.3089C>T	XP_016864952.1:p.Pro1030Leu
NM_001127671.2:c.3089C>T MANE Select	NP_001121143.1:p.Pro1030Leu
NM_002310.6:c.3089C>T	NP_002301.1:p.Pro1030Leu
NM_001364297.2:c.3089C>T	NP_001351226.1:p.Pro1030Leu
NM_001364298.2:c.3056C>T	NP_001351227.1:p.Pro1019Leu