Canonical Allele Identifier: CA3242472

Gene: LIFR

Linked Data

• ClinVar Variation Id: 1991071
• ClinVar RCV Id: RCV002806053
• dbSNP Id: rs780468954
• ExAC: 5:38481706 T / C
• gnomAD v2: 5-38481706-T-C
• gnomAD v4: 5-38481604-T-C
• MyVariant Identifiers: chr5:g.38481706T>C (hg19) ; chr5:g.38481604T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38481604T>C , CM000667.2:g.38481604T>C	GRCh38
NC_000005.9:g.38481706T>C , CM000667.1:g.38481706T>C	GRCh37
NC_000005.8:g.38517463T>C	NCBI36
NG_011817.1:g.118802A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453190.7:c.3285A>G MANE Select	ENSP00000398368.2:p.Pro1095=
ENST00000263409.8:c.3285A>G	ENSP00000263409.4:p.Pro1095=
ENST00000453190.6:c.3285A>G	ENSP00000398368.2:p.Pro1095=
NM_001127671.1:c.3285A>G	NP_001121143.1:p.Pro1095=
NM_002310.5:c.3285A>G	NP_002301.1:p.Pro1095=
XM_011514040.1:c.3285A>G	XP_011512342.1:p.Pro1095=
XM_011514041.1:c.3285A>G	XP_011512343.1:p.Pro1095=
XM_011514042.1:c.3285A>G	XP_011512344.1:p.Pro1095=
NM_001364297.1:c.3285A>G	NP_001351226.1:p.Pro1095=
NM_001364298.1:c.3252A>G	NP_001351227.1:p.Pro1084=
XM_011514042.3:c.3285A>G	XP_011512344.1:p.Pro1095=
XM_017009462.1:c.3339A>G	XP_016864951.1:p.Pro1113=
XM_017009463.1:c.3285A>G	XP_016864952.1:p.Pro1095=
NM_001127671.2:c.3285A>G MANE Select	NP_001121143.1:p.Pro1095=
NM_002310.6:c.3285A>G	NP_002301.1:p.Pro1095=
NM_001364297.2:c.3285A>G	NP_001351226.1:p.Pro1095=
NM_001364298.2:c.3252A>G	NP_001351227.1:p.Pro1084=