Canonical Allele Identifier: CA159302

Gene: FANCA

Linked Data

• ClinVar Variation Id: 134264
• ClinVar RCV Id: RCV000120937 ; RCV000351747 ; RCV000488415 ; RCV001094408 ; RCV001705888
• dbSNP Id: rs17233497
• ExAC: 16:89815152 G / A
• gnomAD v2: 16-89815152-G-A
• gnomAD v3: 16-89748744-G-A
• gnomAD v4: 16-89748744-G-A
• MyVariant Identifiers: chr16:g.89815152G>A (hg19) ; chr16:g.89748744G>A (hg38)
• CIViC: CA159302
• PubMed: PMID:10094191 ; PMID:14695169 ; PMID:24728327 ; PMID:26181256 ; PMID:28864460

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89748744G>A , CM000678.2:g.89748744G>A	GRCh38
NC_000016.9:g.89815152G>A , CM000678.1:g.89815152G>A	GRCh37
NC_000016.8:g.88342653G>A	NCBI36
NG_011706.1:g.72914C>T , LRG_495:g.72914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1741C>T	ENSP00000512522.1:n.*1741C>T
ENST00000564475.6:c.3263C>T	ENSP00000454977.2:p.Ser1088Phe
ENST00000567510.2:c.1833C>T	ENSP00000455969.1:n.1833C>T
ENST00000568369.6:c.3263C>T	ENSP00000456829.1:p.Ser1088Phe
ENST00000568983.6:n.282C>T
ENST00000696274.1:n.3224C>T
ENST00000696275.1:c.*2498C>T	ENSP00000512517.1:n.*2498C>T
ENST00000696286.1:c.3263C>T	ENSP00000512523.1:p.Ser1088Phe
ENST00000696287.1:c.3134C>T	ENSP00000512524.1:p.Ser1045Phe
ENST00000696291.1:c.*2695C>T	ENSP00000512530.1:n.*2695C>T
ENST00000389301.8:c.3263C>T MANE Select	ENSP00000373952.3:p.Ser1088Phe
ENST00000305699.15:n.506C>T
ENST00000389301.7:c.3263C>T	ENSP00000373952.3:p.Ser1088Phe
ENST00000561660.1:c.467C>T
ENST00000567988.5:c.515C>T
ENST00000568369.5:c.3263C>T	ENSP00000456829.1:p.Ser1088Phe
ENST00000568626.1:c.111C>T
ENST00000568983.5:n.91C>T
NM_000135.2:c.3263C>T , LRG_495t1:c.3263C>T	NP_000126.2:p.Ser1088Phe
NM_001286167.1:c.3263C>T	NP_001273096.1:p.Ser1088Phe
XM_005256294.3:c.3263C>T	XP_005256351.1:p.Ser1088Phe
XM_011522945.1:c.3134C>T	XP_011521247.1:p.Ser1045Phe
XM_011522946.1:c.2240C>T	XP_011521248.1:p.Ser747Phe
XM_011522947.1:c.2240C>T	XP_011521249.1:p.Ser747Phe
XR_933244.1:n.3306C>T
XR_933245.1:n.3306C>T
XR_933246.1:n.3133C>T
NM_000135.3:c.3263C>T	NP_000126.2:p.Ser1088Phe
NM_001286167.2:c.3263C>T	NP_001273096.1:p.Ser1088Phe
XM_005256294.4:c.3263C>T	XP_005256351.1:p.Ser1088Phe
XM_011522945.2:c.3134C>T	XP_011521247.1:p.Ser1045Phe
XM_011522946.3:c.2240C>T	XP_011521248.1:p.Ser747Phe
XM_011522947.2:c.2240C>T	XP_011521249.1:p.Ser747Phe
XM_017023044.2:c.3134C>T	XP_016878533.1:p.Ser1045Phe
XM_024450189.1:c.2240C>T	XP_024305957.1:p.Ser747Phe
XR_001751866.1:n.3133C>T
XR_933244.2:n.3306C>T
XR_933245.2:n.3306C>T
NM_000135.4:c.3263C>T MANE Select	NP_000126.2:p.Ser1088Phe
NM_001286167.3:c.3263C>T	NP_001273096.1:p.Ser1088Phe