Canonical Allele Identifier: CA397438028

Gene: FANCA

Linked Data

• dbSNP Id: rs755154360
• gnomAD v4: 16-89764920-G-C
• MyVariant Identifiers: chr16:g.89831328G>C (hg19) ; chr16:g.89764920G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89764920G>C , CM000678.2:g.89764920G>C	GRCh38
NC_000016.9:g.89831328G>C , CM000678.1:g.89831328G>C	GRCh37
NC_000016.8:g.88358829G>C	NCBI36
NG_011706.1:g.56738C>G , LRG_495:g.56738C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1242C>G	ENSP00000512522.1:n.*1242C>G
ENST00000564475.6:c.2748C>G	ENSP00000454977.2:p.Phe916Leu
ENST00000567510.2:c.1447C>G	ENSP00000455969.1:n.1447C>G
ENST00000568369.6:c.2748C>G	ENSP00000456829.1:p.Phe916Leu
ENST00000696274.1:n.2709C>G
ENST00000696275.1:c.*1983C>G	ENSP00000512517.1:n.*1983C>G
ENST00000696276.1:n.2791C>G
ENST00000696286.1:c.2748C>G	ENSP00000512523.1:p.Phe916Leu
ENST00000696287.1:c.2748C>G	ENSP00000512524.1:p.Phe916Leu
ENST00000696291.1:c.*2468C>G	ENSP00000512530.1:n.*2468C>G
ENST00000389301.8:c.2748C>G MANE Select	ENSP00000373952.3:p.Phe916Leu
ENST00000305699.15:n.120C>G
ENST00000389301.7:c.2748C>G	ENSP00000373952.3:p.Phe916Leu
ENST00000561660.1:c.125C>G
ENST00000563318.1:c.154C>G
ENST00000563510.5:c.28C>G
ENST00000567988.5:c.85C>G
ENST00000568369.5:c.2748C>G	ENSP00000456829.1:p.Phe916Leu
NM_000135.2:c.2748C>G , LRG_495t1:c.2748C>G	NP_000126.2:p.Phe916Leu
NM_001286167.1:c.2748C>G	NP_001273096.1:p.Phe916Leu
XM_005256294.3:c.2748C>G	XP_005256351.1:p.Phe916Leu
XM_011522945.1:c.2748C>G	XP_011521247.1:p.Phe916Leu
XM_011522946.1:c.1725C>G	XP_011521248.1:p.Phe575Leu
XM_011522947.1:c.1725C>G	XP_011521249.1:p.Phe575Leu
XR_933244.1:n.2791C>G
XR_933245.1:n.2791C>G
XR_933246.1:n.2791C>G
NM_000135.3:c.2748C>G	NP_000126.2:p.Phe916Leu
NM_001286167.2:c.2748C>G	NP_001273096.1:p.Phe916Leu
XM_005256294.4:c.2748C>G	XP_005256351.1:p.Phe916Leu
XM_011522945.2:c.2748C>G	XP_011521247.1:p.Phe916Leu
XM_011522946.3:c.1725C>G	XP_011521248.1:p.Phe575Leu
XM_011522947.2:c.1725C>G	XP_011521249.1:p.Phe575Leu
XM_017023044.2:c.2748C>G	XP_016878533.1:p.Phe916Leu
XM_017023045.1:c.2748C>G	XP_016878534.1:p.Phe916Leu
XM_024450189.1:c.1725C>G	XP_024305957.1:p.Phe575Leu
XR_001751866.1:n.2791C>G
XR_933244.2:n.2791C>G
XR_933245.2:n.2791C>G
XR_933247.2:n.2920C>G
NM_000135.4:c.2748C>G MANE Select	NP_000126.2:p.Phe916Leu
NM_001286167.3:c.2748C>G	NP_001273096.1:p.Phe916Leu