Canonical Allele Identifier: CA397485762

Gene: FANCA

Linked Data

• gnomAD v4: 16-89745055-A-G
• MyVariant Identifiers: chr16:g.89811463A>G (hg19) ; chr16:g.89745055A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89745055A>G , CM000678.2:g.89745055A>G	GRCh38
NC_000016.9:g.89811463A>G , CM000678.1:g.89811463A>G	GRCh37
NC_000016.8:g.88338964A>G	NCBI36
NG_011706.1:g.76603T>C , LRG_495:g.76603T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2008T>C	ENSP00000512522.1:n.*2008T>C
ENST00000564475.6:c.3530T>C	ENSP00000454977.2:p.Leu1177Pro
ENST00000567510.2:c.2100T>C	ENSP00000455969.1:n.2100T>C
ENST00000568369.6:c.3530T>C	ENSP00000456829.1:p.Leu1177Pro
ENST00000568983.6:n.549T>C
ENST00000696274.1:n.3491T>C
ENST00000696275.1:c.*2765T>C	ENSP00000512517.1:n.*2765T>C
ENST00000696286.1:c.3530T>C	ENSP00000512523.1:p.Leu1177Pro
ENST00000696287.1:c.3401T>C	ENSP00000512524.1:p.Leu1134Pro
ENST00000696291.1:c.*2962T>C	ENSP00000512530.1:n.*2962T>C
ENST00000389301.8:c.3530T>C MANE Select	ENSP00000373952.3:p.Leu1177Pro
ENST00000305699.15:n.773T>C
ENST00000389301.7:c.3530T>C	ENSP00000373952.3:p.Leu1177Pro
ENST00000561660.1:c.734T>C
ENST00000567879.5:c.8T>C	ENSP00000457006.1:p.Leu3Pro
ENST00000567988.5:c.782T>C
ENST00000568369.5:c.3530T>C	ENSP00000456829.1:p.Leu1177Pro
ENST00000568626.1:c.378T>C
ENST00000568983.5:n.358T>C
NM_000135.2:c.3530T>C , LRG_495t1:c.3530T>C	NP_000126.2:p.Leu1177Pro
NM_001286167.1:c.3530T>C	NP_001273096.1:p.Leu1177Pro
XM_005256294.3:c.3530T>C	XP_005256351.1:p.Leu1177Pro
XM_011522945.1:c.3401T>C	XP_011521247.1:p.Leu1134Pro
XM_011522946.1:c.2507T>C	XP_011521248.1:p.Leu836Pro
XM_011522947.1:c.2507T>C	XP_011521249.1:p.Leu836Pro
XR_933244.1:n.3573T>C
XR_933245.1:n.3573T>C
XR_933246.1:n.3400T>C
NM_000135.3:c.3530T>C	NP_000126.2:p.Leu1177Pro
NM_001286167.2:c.3530T>C	NP_001273096.1:p.Leu1177Pro
XM_005256294.4:c.3530T>C	XP_005256351.1:p.Leu1177Pro
XM_011522945.2:c.3401T>C	XP_011521247.1:p.Leu1134Pro
XM_011522946.3:c.2507T>C	XP_011521248.1:p.Leu836Pro
XM_011522947.2:c.2507T>C	XP_011521249.1:p.Leu836Pro
XM_017023044.2:c.3401T>C	XP_016878533.1:p.Leu1134Pro
XM_024450189.1:c.2507T>C	XP_024305957.1:p.Leu836Pro
XR_001751866.1:n.3400T>C
XR_933244.2:n.3573T>C
XR_933245.2:n.3573T>C
NM_000135.4:c.3530T>C MANE Select	NP_000126.2:p.Leu1177Pro
NM_001286167.3:c.3530T>C	NP_001273096.1:p.Leu1177Pro