Canonical Allele Identifier: CA473533434
Gene: FANCF HGNC NCBI

Linked Data

dbSNP Id: rs1214857563
gnomAD v2: 11-22646523-T-C
gnomAD v3: 11-22624977-T-C
gnomAD v4: 11-22624977-T-C
MyVariant Identifiers: chr11:g.22646523T>C (hg19) chr11:g.22624977T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22624977T>C , CM000673.2:g.22624977T>C GRCh38
NC_000011.9:g.22646523T>C , CM000673.1:g.22646523T>C GRCh37
NC_000011.8:g.22603099T>C NCBI36
NG_007425.1:g.5865A>G , LRG_527:g.5865A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.834A>G MANE Select ENSP00000330875.3:p.Leu278=
ENST00000327470.4:c.834A>G ENSP00000330875.3:p.Leu278=
NM_022725.3:c.834A>G , LRG_527t1:c.834A>G NP_073562.1:p.Leu278=
NM_022725.4:c.834A>G MANE Select NP_073562.1:p.Leu278=
Search 100 bp 5'
Search 100 bp 3'