Canonical Allele Identifier: CA397485774

Gene: FANCA

Linked Data

• gnomAD v4: 16-89745061-G-C
• MyVariant Identifiers: chr16:g.89811469G>C (hg19) ; chr16:g.89745061G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89745061G>C , CM000678.2:g.89745061G>C	GRCh38
NC_000016.9:g.89811469G>C , CM000678.1:g.89811469G>C	GRCh37
NC_000016.8:g.88338970G>C	NCBI36
NG_011706.1:g.76597C>G , LRG_495:g.76597C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2002C>G	ENSP00000512522.1:n.*2002C>G
ENST00000564475.6:c.3524C>G	ENSP00000454977.2:p.Pro1175Arg
ENST00000567510.2:c.2094C>G	ENSP00000455969.1:n.2094C>G
ENST00000568369.6:c.3524C>G	ENSP00000456829.1:p.Pro1175Arg
ENST00000568983.6:n.543C>G
ENST00000696274.1:n.3485C>G
ENST00000696275.1:c.*2759C>G	ENSP00000512517.1:n.*2759C>G
ENST00000696286.1:c.3524C>G	ENSP00000512523.1:p.Pro1175Arg
ENST00000696287.1:c.3395C>G	ENSP00000512524.1:p.Pro1132Arg
ENST00000696291.1:c.*2956C>G	ENSP00000512530.1:n.*2956C>G
ENST00000389301.8:c.3524C>G MANE Select	ENSP00000373952.3:p.Pro1175Arg
ENST00000305699.15:n.767C>G
ENST00000389301.7:c.3524C>G	ENSP00000373952.3:p.Pro1175Arg
ENST00000561660.1:c.728C>G
ENST00000567879.5:c.2C>G	ENSP00000457006.1:p.Pro1Arg
ENST00000567988.5:c.776C>G
ENST00000568369.5:c.3524C>G	ENSP00000456829.1:p.Pro1175Arg
ENST00000568626.1:c.372C>G
ENST00000568983.5:n.352C>G
NM_000135.2:c.3524C>G , LRG_495t1:c.3524C>G	NP_000126.2:p.Pro1175Arg
NM_001286167.1:c.3524C>G	NP_001273096.1:p.Pro1175Arg
XM_005256294.3:c.3524C>G	XP_005256351.1:p.Pro1175Arg
XM_011522945.1:c.3395C>G	XP_011521247.1:p.Pro1132Arg
XM_011522946.1:c.2501C>G	XP_011521248.1:p.Pro834Arg
XM_011522947.1:c.2501C>G	XP_011521249.1:p.Pro834Arg
XR_933244.1:n.3567C>G
XR_933245.1:n.3567C>G
XR_933246.1:n.3394C>G
NM_000135.3:c.3524C>G	NP_000126.2:p.Pro1175Arg
NM_001286167.2:c.3524C>G	NP_001273096.1:p.Pro1175Arg
XM_005256294.4:c.3524C>G	XP_005256351.1:p.Pro1175Arg
XM_011522945.2:c.3395C>G	XP_011521247.1:p.Pro1132Arg
XM_011522946.3:c.2501C>G	XP_011521248.1:p.Pro834Arg
XM_011522947.2:c.2501C>G	XP_011521249.1:p.Pro834Arg
XM_017023044.2:c.3395C>G	XP_016878533.1:p.Pro1132Arg
XM_024450189.1:c.2501C>G	XP_024305957.1:p.Pro834Arg
XR_001751866.1:n.3394C>G
XR_933244.2:n.3567C>G
XR_933245.2:n.3567C>G
NM_000135.4:c.3524C>G MANE Select	NP_000126.2:p.Pro1175Arg
NM_001286167.3:c.3524C>G	NP_001273096.1:p.Pro1175Arg