Canonical Allele Identifier: CA12404692
Gene: FRK HGNC NCBI
COSMIC:
COSN14945893 (not active)
COSN16212825 (not active)
MyVariant.info:
GRCh38 chr6:g.116065971C>T
GRCh37 chr6:g.116387134C>T
gnomAD v2:
6:116387134 C / T
gnomAD v3:
6:116065971 C / T
gnomAD v4:
chr6-116065971-C-T
Joint Max Group AF 0.29868327 (MID)
Genomes Max Group AF 0.28203235 (NFE)
dbSNP:
1999930
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116065971C>T , CM000668.2:g.116065971C>T GRCh38
NC_000006.11:g.116387134C>T , CM000668.1:g.116387134C>T GRCh37
NC_000006.10:g.116493827C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_005266882.3:c.-283-5377G>A XP_005266939.1:n.-283-5377G>A
XM_011535653.1:c.-286-5374G>A XP_011533955.1:n.-286-5374G>A
XM_011535654.1:c.-286-5374G>A XP_011533956.1:n.-286-5374G>A
XM_011535655.1:c.-283-5377G>A XP_011533957.1:n.-283-5377G>A
XM_011535656.1:c.5+34521G>A XP_011533958.1:n.5+34521G>A
XM_005266882.4:c.-283-5377G>A XP_005266939.1:n.-283-5377G>A
XM_011535653.2:c.-286-5374G>A XP_011533955.1:n.-286-5374G>A
XM_011535654.2:c.-286-5374G>A XP_011533956.1:n.-286-5374G>A
XM_011535655.2:c.-283-5377G>A XP_011533957.1:n.-283-5377G>A
XM_011535656.2:c.5+34521G>A XP_011533958.1:n.5+34521G>A
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