Canonical Allele Identifier: CA397431212

Gene: FANCA

Linked Data

• MyVariant Identifiers: chr16:g.89825036A>G (hg19) ; chr16:g.89758628A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89758628A>G , CM000678.2:g.89758628A>G	GRCh38
NC_000016.9:g.89825036A>G , CM000678.1:g.89825036A>G	GRCh37
NC_000016.8:g.88352537A>G	NCBI36
NG_011706.1:g.63030T>C , LRG_495:g.63030T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561667.2:c.*1459+3321T>C	ENSP00000512522.1:n.*1459+3321T>C
ENST00000564475.6:c.2930T>C	ENSP00000454977.2:p.Leu977Pro
ENST00000567510.2:c.1551+3321T>C	ENSP00000455969.1:n.1551+3321T>C
ENST00000568369.6:c.2930T>C	ENSP00000456829.1:p.Leu977Pro
ENST00000696274.1:n.2891T>C
ENST00000696275.1:c.*2165T>C	ENSP00000512517.1:n.*2165T>C
ENST00000696286.1:c.2930T>C	ENSP00000512523.1:p.Leu977Pro
ENST00000696287.1:c.2852+3321T>C	ENSP00000512524.1:n.2852+3321T>C
ENST00000696291.1:c.*2498+6262T>C	ENSP00000512530.1:n.*2498+6262T>C
ENST00000389301.8:c.2930T>C MANE Select	ENSP00000373952.3:p.Leu977Pro
ENST00000305699.15:n.224+3321T>C
ENST00000389301.7:c.2930T>C	ENSP00000373952.3:p.Leu977Pro
ENST00000561660.1:c.307T>C
ENST00000563318.1:c.492T>C
ENST00000563510.5:c.371+3321T>C
ENST00000567988.5:c.267T>C
ENST00000568369.5:c.2930T>C	ENSP00000456829.1:p.Leu977Pro
NM_000135.2:c.2930T>C , LRG_495t1:c.2930T>C	NP_000126.2:p.Leu977Pro
NM_001286167.1:c.2930T>C	NP_001273096.1:p.Leu977Pro
XM_005256294.3:c.2930T>C	XP_005256351.1:p.Leu977Pro
XM_011522945.1:c.2852+3321T>C	XP_011521247.1:n.2852+3321T>C
XM_011522946.1:c.1907T>C	XP_011521248.1:p.Leu636Pro
XM_011522947.1:c.1907T>C	XP_011521249.1:p.Leu636Pro
XR_933244.1:n.2973T>C
XR_933245.1:n.2973T>C
XR_933246.1:n.2973T>C
NM_000135.3:c.2930T>C	NP_000126.2:p.Leu977Pro
NM_001286167.2:c.2930T>C	NP_001273096.1:p.Leu977Pro
XM_005256294.4:c.2930T>C	XP_005256351.1:p.Leu977Pro
XM_011522945.2:c.2852+3321T>C	XP_011521247.1:n.2852+3321T>C
XM_011522946.3:c.1907T>C	XP_011521248.1:p.Leu636Pro
XM_011522947.2:c.1907T>C	XP_011521249.1:p.Leu636Pro
XM_017023044.2:c.2852+3321T>C	XP_016878533.1:n.2852+3321T>C
XM_024450189.1:c.1907T>C	XP_024305957.1:p.Leu636Pro
XR_001751866.1:n.2973T>C
XR_933244.2:n.2973T>C
XR_933245.2:n.2973T>C
NM_000135.4:c.2930T>C MANE Select	NP_000126.2:p.Leu977Pro
NM_001286167.3:c.2930T>C	NP_001273096.1:p.Leu977Pro