Canonical Allele Identifier: CA5924404

Gene: FANCF GAS2

Linked Data

• ClinVar Variation Id: 304207
• ClinVar RCV Id: RCV000276248 ; RCV001094033 ; RCV001820900
• dbSNP Id: rs146647469
• ExAC: 11:22647158 T / G
• gnomAD v2: 11-22647158-T-G
• gnomAD v3: 11-22625612-T-G
• gnomAD v4: 11-22625612-T-G
• MyVariant Identifiers: chr11:g.22647158T>G (hg19) ; chr11:g.22625612T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625612T>G , CM000673.2:g.22625612T>G	GRCh38
NC_000011.9:g.22647158T>G , CM000673.1:g.22647158T>G	GRCh37
NC_000011.8:g.22603734T>G	NCBI36
NG_007425.1:g.5230A>C , LRG_527:g.5230A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.199A>C (FANCF) MANE Select	ENSP00000330875.3:p.Arg67=
ENST00000648096.1:n.104T>G (GAS2)
ENST00000327470.4:c.199A>C (FANCF)	ENSP00000330875.3:p.Arg67=
NM_022725.3:c.199A>C , LRG_527t1:c.199A>C (FANCF)	NP_073562.1:p.Arg67=
NM_022725.4:c.199A>C (FANCF) MANE Select	NP_073562.1:p.Arg67=