Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA15371356

Gene: LIFR HGNC NCBI
LIFR-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2071237

gnomAD v2: 5-38595706-C-G

gnomAD v3: 5-38595604-C-G

gnomAD v4: 5-38595604-C-G

MyVariant Identifiers: chr5:g.38595706C>G (hg19) chr5:g.38595604C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38595604C>G , CM000667.2:g.38595604C>G	GRCh38
NC_000005.9:g.38595706C>G , CM000667.1:g.38595706C>G	GRCh37
NC_000005.8:g.38631463C>G	NCBI36
NG_011817.1:g.4802G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000507786.1:n.306-221G>C (LIFR)
NR_103553.1:n.2540+535C>G (LIFR-AS1)
NR_103554.1:n.2540+535C>G (LIFR-AS1)
XM_017009463.1:c.-142-221G>C (LIFR)	XP_016864952.1:n.-142-221G>C

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