Canonical Allele Identifier: CA295269530
Gene: FN3KRP HGNC NCBI

Linked Data

dbSNP Id: rs370972441
gnomAD v4: 17-82727306-T-C
MyVariant Identifiers: chr17:g.80685182T>C (hg19) chr17:g.82727306T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.82727306T>C , CM000679.2:g.82727306T>C GRCh38
NC_000017.10:g.80685182T>C , CM000679.1:g.80685182T>C GRCh37
NC_000017.9:g.78278471T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000269373.11:c.*135T>C MANE Select ENSP00000269373.6:n.*135T>C
ENST00000269373.10:c.*135T>C ENSP00000269373.6:n.*135T>C
ENST00000571594.1:c.53+139T>C ENSP00000459751.1:n.53+139T>C
ENST00000574832.5:c.*1022T>C ENSP00000460869.1:n.*1022T>C
NM_024619.3:c.*135T>C NP_078895.2:n.*135T>C
NR_046408.1:n.1243T>C
XM_024450948.1:c.*135T>C XP_024306716.1:n.*135T>C
NM_024619.4:c.*135T>C MANE Select NP_078895.2:n.*135T>C
NR_046408.2:n.1243T>C
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