Canonical Allele Identifier: CA397485747

Gene: FANCA

Linked Data

• gnomAD v4: 16-89745049-G-T
• MyVariant Identifiers: chr16:g.89811457G>T (hg19) ; chr16:g.89745049G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89745049G>T , CM000678.2:g.89745049G>T	GRCh38
NC_000016.9:g.89811457G>T , CM000678.1:g.89811457G>T	GRCh37
NC_000016.8:g.88338958G>T	NCBI36
NG_011706.1:g.76609C>A , LRG_495:g.76609C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2014C>A	ENSP00000512522.1:n.*2014C>A
ENST00000564475.6:c.3536C>A	ENSP00000454977.2:p.Pro1179His
ENST00000567510.2:c.2106C>A	ENSP00000455969.1:n.2106C>A
ENST00000568369.6:c.3536C>A	ENSP00000456829.1:p.Pro1179His
ENST00000568983.6:n.555C>A
ENST00000696274.1:n.3497C>A
ENST00000696275.1:c.*2771C>A	ENSP00000512517.1:n.*2771C>A
ENST00000696286.1:c.3536C>A	ENSP00000512523.1:p.Pro1179His
ENST00000696287.1:c.3407C>A	ENSP00000512524.1:p.Pro1136His
ENST00000696291.1:c.*2968C>A	ENSP00000512530.1:n.*2968C>A
ENST00000389301.8:c.3536C>A MANE Select	ENSP00000373952.3:p.Pro1179His
ENST00000305699.15:n.779C>A
ENST00000389301.7:c.3536C>A	ENSP00000373952.3:p.Pro1179His
ENST00000561660.1:c.740C>A
ENST00000567879.5:c.14C>A	ENSP00000457006.1:p.Pro5His
ENST00000567988.5:c.788C>A
ENST00000568369.5:c.3536C>A	ENSP00000456829.1:p.Pro1179His
ENST00000568626.1:c.384C>A
ENST00000568983.5:n.364C>A
NM_000135.2:c.3536C>A , LRG_495t1:c.3536C>A	NP_000126.2:p.Pro1179His
NM_001286167.1:c.3536C>A	NP_001273096.1:p.Pro1179His
XM_005256294.3:c.3536C>A	XP_005256351.1:p.Pro1179His
XM_011522945.1:c.3407C>A	XP_011521247.1:p.Pro1136His
XM_011522946.1:c.2513C>A	XP_011521248.1:p.Pro838His
XM_011522947.1:c.2513C>A	XP_011521249.1:p.Pro838His
XR_933244.1:n.3579C>A
XR_933245.1:n.3579C>A
XR_933246.1:n.3406C>A
NM_000135.3:c.3536C>A	NP_000126.2:p.Pro1179His
NM_001286167.2:c.3536C>A	NP_001273096.1:p.Pro1179His
XM_005256294.4:c.3536C>A	XP_005256351.1:p.Pro1179His
XM_011522945.2:c.3407C>A	XP_011521247.1:p.Pro1136His
XM_011522946.3:c.2513C>A	XP_011521248.1:p.Pro838His
XM_011522947.2:c.2513C>A	XP_011521249.1:p.Pro838His
XM_017023044.2:c.3407C>A	XP_016878533.1:p.Pro1136His
XM_024450189.1:c.2513C>A	XP_024305957.1:p.Pro838His
XR_001751866.1:n.3406C>A
XR_933244.2:n.3579C>A
XR_933245.2:n.3579C>A
NM_000135.4:c.3536C>A MANE Select	NP_000126.2:p.Pro1179His
NM_001286167.3:c.3536C>A	NP_001273096.1:p.Pro1179His