Canonical Allele Identifier: CA15421700
Gene: FRK HGNC NCBI
COSMIC:
COSN14894356 (not active)
MyVariant.info:
GRCh38 chr6:g.116097961G>A
GRCh37 chr6:g.116419124G>A
gnomAD v2:
6:116419124 G / A
gnomAD v3:
6:116097961 G / A
gnomAD v4:
chr6-116097961-G-A
Joint Max Group AF 0.27217917 (AFR)
Genomes Max Group AF 0.27217917 (AFR)
dbSNP:
720446
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116097961G>A , CM000668.2:g.116097961G>A GRCh38
NC_000006.11:g.116419124G>A , CM000668.1:g.116419124G>A GRCh37
NC_000006.10:g.116525817G>A NCBI36
NG_021351.1:g.2126G>A

Transcript Alleles

HGVS Amino-acid Change
XM_005266882.3:c.-502+2531C>T XP_005266939.1:n.-502+2531C>T
XM_011535653.1:c.-505+2531C>T XP_011533955.1:n.-505+2531C>T
XM_011535654.1:c.-287+2531C>T XP_011533956.1:n.-287+2531C>T
XM_011535655.1:c.-284+2531C>T XP_011533957.1:n.-284+2531C>T
XM_011535656.1:c.5+2531C>T XP_011533958.1:n.5+2531C>T
XM_005266882.4:c.-502+2531C>T XP_005266939.1:n.-502+2531C>T
XM_011535653.2:c.-505+2531C>T XP_011533955.1:n.-505+2531C>T
XM_011535654.2:c.-287+2531C>T XP_011533956.1:n.-287+2531C>T
XM_011535655.2:c.-284+2531C>T XP_011533957.1:n.-284+2531C>T
XM_011535656.2:c.5+2531C>T XP_011533958.1:n.5+2531C>T
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