Canonical Allele Identifier: CA5924392

Gene: FANCF GAS2

Linked Data

• ClinVar Variation Id: 241437
• ClinVar RCV Id: RCV000225823 ; RCV000764969 ; RCV003492014 ; RCV001820762 ; RCV003884425
• dbSNP Id: rs145057187
• ExAC: 11:22647116 C / A
• gnomAD v2: 11-22647116-C-A
• gnomAD v3: 11-22625570-C-A
• gnomAD v4: 11-22625570-C-A
• MyVariant Identifiers: chr11:g.22647116C>A (hg19) ; chr11:g.22625570C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625570C>A , CM000673.2:g.22625570C>A	GRCh38
NC_000011.9:g.22647116C>A , CM000673.1:g.22647116C>A	GRCh37
NC_000011.8:g.22603692C>A	NCBI36
NG_007425.1:g.5272G>T , LRG_527:g.5272G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.241G>T (FANCF) MANE Select	ENSP00000330875.3:p.Ala81Ser
ENST00000648096.1:n.62C>A (GAS2)
ENST00000327470.4:c.241G>T (FANCF)	ENSP00000330875.3:p.Ala81Ser
NM_022725.3:c.241G>T , LRG_527t1:c.241G>T (FANCF)	NP_073562.1:p.Ala81Ser
NM_022725.4:c.241G>T (FANCF) MANE Select	NP_073562.1:p.Ala81Ser