Canonical Allele Identifier: CA380059151
Gene: FANCF HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.22646972G>A (hg19) chr11:g.22625426G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625426G>A , CM000673.2:g.22625426G>A GRCh38
NC_000011.9:g.22646972G>A , CM000673.1:g.22646972G>A GRCh37
NC_000011.8:g.22603548G>A NCBI36
NG_007425.1:g.5416C>T , LRG_527:g.5416C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.385C>T MANE Select ENSP00000330875.3:p.Leu129Phe
ENST00000327470.4:c.385C>T ENSP00000330875.3:p.Leu129Phe
NM_022725.3:c.385C>T , LRG_527t1:c.385C>T NP_073562.1:p.Leu129Phe
NM_022725.4:c.385C>T MANE Select NP_073562.1:p.Leu129Phe
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