Canonical Allele Identifier: CA5924364

Gene: FANCF

Linked Data

• ClinVar Variation Id: 241438
• ClinVar RCV Id: RCV000229804 ; RCV001820763 ; RCV003153540 ; RCV003955369 ; RCV003316303
• dbSNP Id: rs372625322
• ExAC: 11:22647008 G / T
• gnomAD v2: 11-22647008-G-T
• gnomAD v3: 11-22625462-G-T
• gnomAD v4: 11-22625462-G-T
• MyVariant Identifiers: chr11:g.22647008G>T (hg19) ; chr11:g.22625462G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625462G>T , CM000673.2:g.22625462G>T	GRCh38
NC_000011.9:g.22647008G>T , CM000673.1:g.22647008G>T	GRCh37
NC_000011.8:g.22603584G>T	NCBI36
NG_007425.1:g.5380C>A , LRG_527:g.5380C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.349C>A MANE Select	ENSP00000330875.3:p.Pro117Thr
ENST00000327470.4:c.349C>A	ENSP00000330875.3:p.Pro117Thr
NM_022725.3:c.349C>A , LRG_527t1:c.349C>A	NP_073562.1:p.Pro117Thr
NM_022725.4:c.349C>A MANE Select	NP_073562.1:p.Pro117Thr