Canonical Allele Identifier: CA5924383

Gene: FANCF GAS2

Linked Data

• dbSNP Id: rs750121502
• ExAC: 11:22647071 G / T
• gnomAD v2: 11-22647071-G-T
• gnomAD v3: 11-22625525-G-T
• gnomAD v4: 11-22625525-G-T
• MyVariant Identifiers: chr11:g.22647071G>T (hg19) ; chr11:g.22625525G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625525G>T , CM000673.2:g.22625525G>T	GRCh38
NC_000011.9:g.22647071G>T , CM000673.1:g.22647071G>T	GRCh37
NC_000011.8:g.22603647G>T	NCBI36
NG_007425.1:g.5317C>A , LRG_527:g.5317C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.286C>A (FANCF) MANE Select	ENSP00000330875.3:p.Arg96Ser
ENST00000648096.1:n.17G>T (GAS2)
ENST00000327470.4:c.286C>A (FANCF)	ENSP00000330875.3:p.Arg96Ser
NM_022725.3:c.286C>A , LRG_527t1:c.286C>A (FANCF)	NP_073562.1:p.Arg96Ser
NM_022725.4:c.286C>A (FANCF) MANE Select	NP_073562.1:p.Arg96Ser