Canonical Allele Identifier: CA569675378
Gene: FRK HGNC NCBI

Linked Data

dbSNP Id: rs1999930
gnomAD v2: 6-116387134-C-G
gnomAD v3: 6-116065971-C-G
gnomAD v4: 6-116065971-C-G
MyVariant Identifiers: chr6:g.116387134C>G (hg19) chr6:g.116065971C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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