Canonical Allele Identifier: CA473533762

Linked Data

ClinVar Variation Id: 2759153
ClinVar RCV Id: RCV003524688
MyVariant Identifiers: chr11:g.22647065G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625519G>A , CM000673.2:g.22625519G>A GRCh38
NC_000011.9:g.22647065G>A , CM000673.1:g.22647065G>A GRCh37
NC_000011.8:g.22603641G>A NCBI36
NG_007425.1:g.5323C>T , LRG_527:g.5323C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.292C>T (FANCF) MANE Select ENSP00000330875.3:p.Leu98=
ENST00000648096.1:n.11G>A (GAS2)
ENST00000327470.4:c.292C>T (FANCF) ENSP00000330875.3:p.Leu98=
NM_022725.3:c.292C>T , LRG_527t1:c.292C>T (FANCF) NP_073562.1:p.Leu98=
NM_022725.4:c.292C>T (FANCF) MANE Select NP_073562.1:p.Leu98=