Canonical Allele Identifier: CA11903390
Gene: FGFBP1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.15936769C>T
GRCh37 chr4:g.15938392C>T
gnomAD v2:
4:15938392 C / T
gnomAD v3:
4:15936769 C / T
gnomAD v4:
chr4-15936769-C-T
Joint Max Group AF 0.18079693 (AMR)
Genomes Max Group AF 0.17674298 (EAS)
Exomes Max Group AF 0.18152053 (AMR)
dbSNP:
16892645
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15936769C>T , CM000666.2:g.15936769C>T GRCh38
NC_000004.11:g.15938392C>T , CM000666.1:g.15938392C>T GRCh37
NC_000004.10:g.15547490C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382333.2:c.-20-117G>A MANE Select ENSP00000371770.1:n.-20-117G>A
ENST00000382333.1:c.-20-117G>A ENSP00000371770.1:n.-20-117G>A
NM_005130.4:c.-20-117G>A NP_005121.1:n.-20-117G>A
NM_005130.5:c.-20-117G>A MANE Select NP_005121.1:n.-20-117G>A
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