Canonical Allele Identifier: CA397485580

Gene: FANCA

Linked Data

• MyVariant Identifiers: chr16:g.89811371T>G (hg19) ; chr16:g.89744963T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89744963T>G , CM000678.2:g.89744963T>G	GRCh38
NC_000016.9:g.89811371T>G , CM000678.1:g.89811371T>G	GRCh37
NC_000016.8:g.88338872T>G	NCBI36
NG_011706.1:g.76695A>C , LRG_495:g.76695A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2100A>C	ENSP00000512522.1:n.*2100A>C
ENST00000564475.6:c.3622A>C	ENSP00000454977.2:p.Ser1208Arg
ENST00000567510.2:c.2192A>C	ENSP00000455969.1:n.2192A>C
ENST00000568369.6:c.3622A>C	ENSP00000456829.1:p.Ser1208Arg
ENST00000568983.6:n.641A>C
ENST00000696274.1:n.3583A>C
ENST00000696275.1:c.*2857A>C	ENSP00000512517.1:n.*2857A>C
ENST00000696286.1:c.3622A>C	ENSP00000512523.1:p.Ser1208Arg
ENST00000696287.1:c.3493A>C	ENSP00000512524.1:p.Ser1165Arg
ENST00000696291.1:c.*3054A>C	ENSP00000512530.1:n.*3054A>C
ENST00000389301.8:c.3622A>C MANE Select	ENSP00000373952.3:p.Ser1208Arg
ENST00000305699.15:n.865A>C
ENST00000389301.7:c.3622A>C	ENSP00000373952.3:p.Ser1208Arg
ENST00000564969.5:n.46A>C
ENST00000567879.5:c.100A>C	ENSP00000457006.1:p.Ser34Arg
ENST00000567988.5:c.874A>C
ENST00000568369.5:c.3622A>C	ENSP00000456829.1:p.Ser1208Arg
ENST00000568626.1:c.470A>C
ENST00000568983.5:n.450A>C
NM_000135.2:c.3622A>C , LRG_495t1:c.3622A>C	NP_000126.2:p.Ser1208Arg
NM_001286167.1:c.3622A>C	NP_001273096.1:p.Ser1208Arg
XM_005256294.3:c.3622A>C	XP_005256351.1:p.Ser1208Arg
XM_011522945.1:c.3493A>C	XP_011521247.1:p.Ser1165Arg
XM_011522946.1:c.2599A>C	XP_011521248.1:p.Ser867Arg
XM_011522947.1:c.2599A>C	XP_011521249.1:p.Ser867Arg
XR_933244.1:n.3665A>C
XR_933245.1:n.3665A>C
XR_933246.1:n.3492A>C
NM_000135.3:c.3622A>C	NP_000126.2:p.Ser1208Arg
NM_001286167.2:c.3622A>C	NP_001273096.1:p.Ser1208Arg
XM_005256294.4:c.3622A>C	XP_005256351.1:p.Ser1208Arg
XM_011522945.2:c.3493A>C	XP_011521247.1:p.Ser1165Arg
XM_011522946.3:c.2599A>C	XP_011521248.1:p.Ser867Arg
XM_011522947.2:c.2599A>C	XP_011521249.1:p.Ser867Arg
XM_017023044.2:c.3493A>C	XP_016878533.1:p.Ser1165Arg
XM_024450189.1:c.2599A>C	XP_024305957.1:p.Ser867Arg
XR_001751866.1:n.3492A>C
XR_933244.2:n.3665A>C
XR_933245.2:n.3665A>C
NM_000135.4:c.3622A>C MANE Select	NP_000126.2:p.Ser1208Arg
NM_001286167.3:c.3622A>C	NP_001273096.1:p.Ser1208Arg