Canonical Allele Identifier: CA146375901
Gene: FRK HGNC NCBI

Linked Data

dbSNP Id: rs9488822
gnomAD v2: 6-116312893-A-T
gnomAD v3: 6-115991730-A-T
gnomAD v4: 6-115991730-A-T
MyVariant Identifiers: chr6:g.116312893A>T (hg19) chr6:g.115991730A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.115991730A>T , CM000668.2:g.115991730A>T GRCh38
NC_000006.11:g.116312893A>T , CM000668.1:g.116312893A>T GRCh37
NC_000006.10:g.116419586A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000606080.2:c.466+12147T>A MANE Select ENSP00000476145.1:n.466+12147T>A
ENST00000606080.1:c.466+12147T>A ENSP00000476145.1:n.466+12147T>A
NM_002031.2:c.466+12147T>A NP_002022.1:n.466+12147T>A
XM_005266880.3:c.466+12147T>A XP_005266937.1:n.466+12147T>A
XM_005266881.1:c.466+12147T>A XP_005266938.1:n.466+12147T>A
XM_005266882.3:c.466+12147T>A XP_005266939.1:n.466+12147T>A
XM_011535653.1:c.466+12147T>A XP_011533955.1:n.466+12147T>A
XM_011535654.1:c.466+12147T>A XP_011533956.1:n.466+12147T>A
XM_011535655.1:c.466+12147T>A XP_011533957.1:n.466+12147T>A
XM_011535656.1:c.127+12147T>A XP_011533958.1:n.127+12147T>A
XM_005266880.4:c.466+12147T>A XP_005266937.1:n.466+12147T>A
XM_005266881.2:c.466+12147T>A XP_005266938.1:n.466+12147T>A
XM_005266882.4:c.466+12147T>A XP_005266939.1:n.466+12147T>A
XM_011535653.2:c.466+12147T>A XP_011533955.1:n.466+12147T>A
XM_011535654.2:c.466+12147T>A XP_011533956.1:n.466+12147T>A
XM_011535655.2:c.466+12147T>A XP_011533957.1:n.466+12147T>A
XM_011535656.2:c.127+12147T>A XP_011533958.1:n.127+12147T>A
XM_017010645.1:c.466+12147T>A XP_016866134.1:n.466+12147T>A
NM_002031.3:c.466+12147T>A MANE Select NP_002022.1:n.466+12147T>A
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