Canonical Allele Identifier: CA5924434

Gene: FANCF GAS2

Linked Data

• ClinVar Variation Id: 261631
• ClinVar RCV Id: RCV000367096 ; RCV001094034 ; RCV001706360 ; RCV003891967
• dbSNP Id: rs151253274
• ExAC: 11:22647261 G / A
• gnomAD v2: 11-22647261-G-A
• gnomAD v3: 11-22625715-G-A
• gnomAD v4: 11-22625715-G-A
• MyVariant Identifiers: chr11:g.22647261G>A (hg19) ; chr11:g.22625715G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625715G>A , CM000673.2:g.22625715G>A	GRCh38
NC_000011.9:g.22647261G>A , CM000673.1:g.22647261G>A	GRCh37
NC_000011.8:g.22603837G>A	NCBI36
NG_007425.1:g.5127C>T , LRG_527:g.5127C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.96C>T (FANCF) MANE Select	ENSP00000330875.3:p.Arg32=
ENST00000648096.1:n.207G>A (GAS2)
ENST00000327470.4:c.96C>T (FANCF)	ENSP00000330875.3:p.Arg32=
ENST00000528582.5:c.-119G>A (GAS2)	ENSP00000432584.1:n.-119G>A
NM_022725.3:c.96C>T , LRG_527t1:c.96C>T (FANCF)	NP_073562.1:p.Arg32=
NM_022725.4:c.96C>T (FANCF) MANE Select	NP_073562.1:p.Arg32=