Canonical Allele Identifier: CA3972193
Gene: FAM162B HGNC NCBI
COSMIC:
COSM4160144 (not active)
MyVariant.info:
GRCh38 chr6:g.116765215C>A
GRCh37 chr6:g.117086378C>A
Revel Score:
ENST00000368557 (MANE Select) 0.120
gnomAD v2:
6:117086378 C / A
gnomAD v3:
6:116765215 C / A
gnomAD v4:
chr6-116765215-C-A
Joint Max Group AF 0.22734244 (MID)
Genomes Max Group AF 0.14890811 (NFE)
Exomes Max Group AF 0.22333186 (MID)
dbSNP:
654128
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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'