Canonical Allele Identifier: CA397485763

Gene: FANCA

Linked Data

• dbSNP Id: rs2038335485
• gnomAD v3: 16-89745056-G-C
• gnomAD v4: 16-89745056-G-C
• MyVariant Identifiers: chr16:g.89811464G>C (hg19) ; chr16:g.89745056G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89745056G>C , CM000678.2:g.89745056G>C	GRCh38
NC_000016.9:g.89811464G>C , CM000678.1:g.89811464G>C	GRCh37
NC_000016.8:g.88338965G>C	NCBI36
NG_011706.1:g.76602C>G , LRG_495:g.76602C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2007C>G	ENSP00000512522.1:n.*2007C>G
ENST00000564475.6:c.3529C>G	ENSP00000454977.2:p.Leu1177Val
ENST00000567510.2:c.2099C>G	ENSP00000455969.1:n.2099C>G
ENST00000568369.6:c.3529C>G	ENSP00000456829.1:p.Leu1177Val
ENST00000568983.6:n.548C>G
ENST00000696274.1:n.3490C>G
ENST00000696275.1:c.*2764C>G	ENSP00000512517.1:n.*2764C>G
ENST00000696286.1:c.3529C>G	ENSP00000512523.1:p.Leu1177Val
ENST00000696287.1:c.3400C>G	ENSP00000512524.1:p.Leu1134Val
ENST00000696291.1:c.*2961C>G	ENSP00000512530.1:n.*2961C>G
ENST00000389301.8:c.3529C>G MANE Select	ENSP00000373952.3:p.Leu1177Val
ENST00000305699.15:n.772C>G
ENST00000389301.7:c.3529C>G	ENSP00000373952.3:p.Leu1177Val
ENST00000561660.1:c.733C>G
ENST00000567879.5:c.7C>G	ENSP00000457006.1:p.Leu3Val
ENST00000567988.5:c.781C>G
ENST00000568369.5:c.3529C>G	ENSP00000456829.1:p.Leu1177Val
ENST00000568626.1:c.377C>G
ENST00000568983.5:n.357C>G
NM_000135.2:c.3529C>G , LRG_495t1:c.3529C>G	NP_000126.2:p.Leu1177Val
NM_001286167.1:c.3529C>G	NP_001273096.1:p.Leu1177Val
XM_005256294.3:c.3529C>G	XP_005256351.1:p.Leu1177Val
XM_011522945.1:c.3400C>G	XP_011521247.1:p.Leu1134Val
XM_011522946.1:c.2506C>G	XP_011521248.1:p.Leu836Val
XM_011522947.1:c.2506C>G	XP_011521249.1:p.Leu836Val
XR_933244.1:n.3572C>G
XR_933245.1:n.3572C>G
XR_933246.1:n.3399C>G
NM_000135.3:c.3529C>G	NP_000126.2:p.Leu1177Val
NM_001286167.2:c.3529C>G	NP_001273096.1:p.Leu1177Val
XM_005256294.4:c.3529C>G	XP_005256351.1:p.Leu1177Val
XM_011522945.2:c.3400C>G	XP_011521247.1:p.Leu1134Val
XM_011522946.3:c.2506C>G	XP_011521248.1:p.Leu836Val
XM_011522947.2:c.2506C>G	XP_011521249.1:p.Leu836Val
XM_017023044.2:c.3400C>G	XP_016878533.1:p.Leu1134Val
XM_024450189.1:c.2506C>G	XP_024305957.1:p.Leu836Val
XR_001751866.1:n.3399C>G
XR_933244.2:n.3572C>G
XR_933245.2:n.3572C>G
NM_000135.4:c.3529C>G MANE Select	NP_000126.2:p.Leu1177Val
NM_001286167.3:c.3529C>G	NP_001273096.1:p.Leu1177Val