Canonical Allele Identifier: CA397485658

Gene: FANCA

Linked Data

• ClinVar Variation Id: 526352
• ClinVar RCV Id: RCV000630873 ; RCV001256405
• dbSNP Id: rs1555536390
• MyVariant Identifiers: chr16:g.89811412G>A (hg19) ; chr16:g.89745004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89745004G>A , CM000678.2:g.89745004G>A	GRCh38
NC_000016.9:g.89811412G>A , CM000678.1:g.89811412G>A	GRCh37
NC_000016.8:g.88338913G>A	NCBI36
NG_011706.1:g.76654C>T , LRG_495:g.76654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2059C>T	ENSP00000512522.1:n.*2059C>T
ENST00000564475.6:c.3581C>T	ENSP00000454977.2:p.Pro1194Leu
ENST00000567510.2:c.2151C>T	ENSP00000455969.1:n.2151C>T
ENST00000568369.6:c.3581C>T	ENSP00000456829.1:p.Pro1194Leu
ENST00000568983.6:n.600C>T
ENST00000696274.1:n.3542C>T
ENST00000696275.1:c.*2816C>T	ENSP00000512517.1:n.*2816C>T
ENST00000696286.1:c.3581C>T	ENSP00000512523.1:p.Pro1194Leu
ENST00000696287.1:c.3452C>T	ENSP00000512524.1:p.Pro1151Leu
ENST00000696291.1:c.*3013C>T	ENSP00000512530.1:n.*3013C>T
ENST00000389301.8:c.3581C>T MANE Select	ENSP00000373952.3:p.Pro1194Leu
ENST00000305699.15:n.824C>T
ENST00000389301.7:c.3581C>T	ENSP00000373952.3:p.Pro1194Leu
ENST00000564969.5:n.5C>T
ENST00000567879.5:c.59C>T	ENSP00000457006.1:p.Pro20Leu
ENST00000567988.5:c.833C>T
ENST00000568369.5:c.3581C>T	ENSP00000456829.1:p.Pro1194Leu
ENST00000568626.1:c.429C>T
ENST00000568983.5:n.409C>T
NM_000135.2:c.3581C>T , LRG_495t1:c.3581C>T	NP_000126.2:p.Pro1194Leu
NM_001286167.1:c.3581C>T	NP_001273096.1:p.Pro1194Leu
XM_005256294.3:c.3581C>T	XP_005256351.1:p.Pro1194Leu
XM_011522945.1:c.3452C>T	XP_011521247.1:p.Pro1151Leu
XM_011522946.1:c.2558C>T	XP_011521248.1:p.Pro853Leu
XM_011522947.1:c.2558C>T	XP_011521249.1:p.Pro853Leu
XR_933244.1:n.3624C>T
XR_933245.1:n.3624C>T
XR_933246.1:n.3451C>T
NM_000135.3:c.3581C>T	NP_000126.2:p.Pro1194Leu
NM_001286167.2:c.3581C>T	NP_001273096.1:p.Pro1194Leu
XM_005256294.4:c.3581C>T	XP_005256351.1:p.Pro1194Leu
XM_011522945.2:c.3452C>T	XP_011521247.1:p.Pro1151Leu
XM_011522946.3:c.2558C>T	XP_011521248.1:p.Pro853Leu
XM_011522947.2:c.2558C>T	XP_011521249.1:p.Pro853Leu
XM_017023044.2:c.3452C>T	XP_016878533.1:p.Pro1151Leu
XM_024450189.1:c.2558C>T	XP_024305957.1:p.Pro853Leu
XR_001751866.1:n.3451C>T
XR_933244.2:n.3624C>T
XR_933245.2:n.3624C>T
NM_000135.4:c.3581C>T MANE Select	NP_000126.2:p.Pro1194Leu
NM_001286167.3:c.3581C>T	NP_001273096.1:p.Pro1194Leu