Canonical Allele Identifier: CA3242491

Gene: LIFR

Linked Data

• ClinVar Variation Id: 2150048
• ClinVar RCV Id: RCV003083326
• dbSNP Id: rs377647437
• ExAC: 5:38481825 A / G
• gnomAD v2: 5-38481825-A-G
• gnomAD v3: 5-38481723-A-G
• gnomAD v4: 5-38481723-A-G
• MyVariant Identifiers: chr5:g.38481825A>G (hg19) ; chr5:g.38481723A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38481723A>G , CM000667.2:g.38481723A>G	GRCh38
NC_000005.9:g.38481825A>G , CM000667.1:g.38481825A>G	GRCh37
NC_000005.8:g.38517582A>G	NCBI36
NG_011817.1:g.118683T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453190.7:c.3166T>C MANE Select	ENSP00000398368.2:p.Ser1056Pro
ENST00000263409.8:c.3166T>C	ENSP00000263409.4:p.Ser1056Pro
ENST00000453190.6:c.3166T>C	ENSP00000398368.2:p.Ser1056Pro
NM_001127671.1:c.3166T>C	NP_001121143.1:p.Ser1056Pro
NM_002310.5:c.3166T>C	NP_002301.1:p.Ser1056Pro
XM_011514040.1:c.3166T>C	XP_011512342.1:p.Ser1056Pro
XM_011514041.1:c.3166T>C	XP_011512343.1:p.Ser1056Pro
XM_011514042.1:c.3166T>C	XP_011512344.1:p.Ser1056Pro
NM_001364297.1:c.3166T>C	NP_001351226.1:p.Ser1056Pro
NM_001364298.1:c.3133T>C	NP_001351227.1:p.Ser1045Pro
XM_011514042.3:c.3166T>C	XP_011512344.1:p.Ser1056Pro
XM_017009462.1:c.3220T>C	XP_016864951.1:p.Ser1074Pro
XM_017009463.1:c.3166T>C	XP_016864952.1:p.Ser1056Pro
NM_001127671.2:c.3166T>C MANE Select	NP_001121143.1:p.Ser1056Pro
NM_002310.6:c.3166T>C	NP_002301.1:p.Ser1056Pro
NM_001364297.2:c.3166T>C	NP_001351226.1:p.Ser1056Pro
NM_001364298.2:c.3133T>C	NP_001351227.1:p.Ser1045Pro