×
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:
CA3972193
Gene: FAM162B
HGNC
NCBI
Linked Data
dbSNP Id:
rs654128
ExAC:
6:117086378 C / A
gnomAD v2:
6-117086378-C-A
gnomAD v3:
6-116765215-C-A
gnomAD v4:
6-116765215-C-A
MyVariant Identifiers:
chr6:g.117086378C>A (hg19)
chr6:g.116765215C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.116765215C>A , CM000668.2:g.116765215C>A
GRCh38
NC_000006.11:g.117086378C>A , CM000668.1:g.117086378C>A
GRCh37
NC_000006.10:g.117193071C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000368557.6:c.213G>T
MANE Select
ENSP00000357545.4:p.Gln71His
ENST00000368557.5:c.213G>T
ENSP00000357545.4:p.Gln71His
NM_001085480.2:c.213G>T
NP_001078949.1:p.Gln71His
NM_001085480.3:c.213G>T
MANE Select
NP_001078949.1:p.Gln71His
Search 100 bp 5'
Search 100 bp 3'