Canonical Allele Identifier: CA219086642

Gene: FANCF

Linked Data

• ClinVar Variation Id: 1440055
• ClinVar RCV Id: RCV001936785 ; RCV002473331
• dbSNP Id: rs984455929
• gnomAD v4: 11-22625360-A-T
• MyVariant Identifiers: chr11:g.22646906A>T (hg19) ; chr11:g.22625360A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625360A>T , CM000673.2:g.22625360A>T	GRCh38
NC_000011.9:g.22646906A>T , CM000673.1:g.22646906A>T	GRCh37
NC_000011.8:g.22603482A>T	NCBI36
NG_007425.1:g.5482T>A , LRG_527:g.5482T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.451T>A MANE Select	ENSP00000330875.3:p.Tyr151Asn
ENST00000327470.4:c.451T>A	ENSP00000330875.3:p.Tyr151Asn
NM_022725.3:c.451T>A , LRG_527t1:c.451T>A	NP_073562.1:p.Tyr151Asn
NM_022725.4:c.451T>A MANE Select	NP_073562.1:p.Tyr151Asn