Canonical Allele Identifier: CA380058726
Gene: FANCF HGNC NCBI

Linked Data

dbSNP Id: rs1400250348
gnomAD v2: 11-22646765-G-C
gnomAD v4: 11-22625219-G-C
COSMIC: COSM6456779
MyVariant Identifiers: chr11:g.22646765G>C (hg19) chr11:g.22625219G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625219G>C , CM000673.2:g.22625219G>C GRCh38
NC_000011.9:g.22646765G>C , CM000673.1:g.22646765G>C GRCh37
NC_000011.8:g.22603341G>C NCBI36
NG_007425.1:g.5623C>G , LRG_527:g.5623C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.592C>G MANE Select ENSP00000330875.3:p.Gln198Glu
ENST00000327470.4:c.592C>G ENSP00000330875.3:p.Gln198Glu
NM_022725.3:c.592C>G , LRG_527t1:c.592C>G NP_073562.1:p.Gln198Glu
NM_022725.4:c.592C>G MANE Select NP_073562.1:p.Gln198Glu
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