Canonical Allele Identifier: CA5924254

Gene: FANCF

Linked Data

• ClinVar Variation Id: 1001967
• ClinVar RCV Id: RCV001298328 ; RCV002499547
• dbSNP Id: rs144524228
• ExAC: 11:22646536 T / G
• gnomAD v2: 11-22646536-T-G
• gnomAD v3: 11-22624990-T-G
• gnomAD v4: 11-22624990-T-G
• MyVariant Identifiers: chr11:g.22646536T>G (hg19) ; chr11:g.22624990T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22624990T>G , CM000673.2:g.22624990T>G	GRCh38
NC_000011.9:g.22646536T>G , CM000673.1:g.22646536T>G	GRCh37
NC_000011.8:g.22603112T>G	NCBI36
NG_007425.1:g.5852A>C , LRG_527:g.5852A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.821A>C MANE Select	ENSP00000330875.3:p.Tyr274Ser
ENST00000327470.4:c.821A>C	ENSP00000330875.3:p.Tyr274Ser
NM_022725.3:c.821A>C , LRG_527t1:c.821A>C	NP_073562.1:p.Tyr274Ser
NM_022725.4:c.821A>C MANE Select	NP_073562.1:p.Tyr274Ser