×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA356657349
Gene: KLB
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr4:g.39448450A>C (hg19)
chr4:g.39446830A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.39446830A>C , CM000666.2:g.39446830A>C
GRCh38
NC_000004.11:g.39448450A>C , CM000666.1:g.39448450A>C
GRCh37
NC_000004.10:g.39124845A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000257408.5:c.2104A>C
MANE Select
ENSP00000257408.4:p.Asn702His
ENST00000257408.4:c.2104A>C
ENSP00000257408.4:p.Asn702His
NM_175737.3:c.2104A>C
NP_783864.1:p.Asn702His
XM_005262644.1:c.2077A>C
XP_005262701.1:p.Asn693His
NM_175737.4:c.2104A>C
MANE Select
NP_783864.1:p.Asn702His
Search 100 bp 5'
Search 100 bp 3'