Canonical Allele Identifier: CA5924463

Gene: FANCF GAS2

Linked Data

• ClinVar Variation Id: 261630
• ClinVar RCV Id: RCV000243715 ; RCV000327717 ; RCV000860380 ; RCV002518652
• dbSNP Id: rs3740615
• ExAC: 11:22647366 G / A
• gnomAD v2: 11-22647366-G-A
• gnomAD v3: 11-22625820-G-A
• gnomAD v4: 11-22625820-G-A
• MyVariant Identifiers: chr11:g.22647366G>A (hg19) ; chr11:g.22625820G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625820G>A , CM000673.2:g.22625820G>A	GRCh38
NC_000011.9:g.22647366G>A , CM000673.1:g.22647366G>A	GRCh37
NC_000011.8:g.22603942G>A	NCBI36
NG_007425.1:g.5022C>T , LRG_527:g.5022C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.-10C>T (FANCF) MANE Select	ENSP00000330875.3:n.-10C>T
ENST00000648096.1:n.312G>A (GAS2)
ENST00000327470.4:c.-10C>T (FANCF)	ENSP00000330875.3:n.-10C>T
ENST00000528582.5:c.-21+7G>A (GAS2)	ENSP00000432584.1:n.-21+7G>A
NM_022725.3:c.-10C>T , LRG_527t1:c.-10C>T (FANCF)	NP_073562.1:n.-10C>T
NM_022725.4:c.-10C>T (FANCF) MANE Select	NP_073562.1:n.-10C>T