Canonical Allele Identifier: CA497195238

Gene: FANCA

Linked Data

• MyVariant Identifiers: chr16:g.89811462C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89745054C>G , CM000678.2:g.89745054C>G	GRCh38
NC_000016.9:g.89811462C>G , CM000678.1:g.89811462C>G	GRCh37
NC_000016.8:g.88338963C>G	NCBI36
NG_011706.1:g.76604G>C , LRG_495:g.76604G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2009G>C	ENSP00000512522.1:n.*2009G>C
ENST00000564475.6:c.3531G>C	ENSP00000454977.2:p.Leu1177=
ENST00000567510.2:c.2101G>C	ENSP00000455969.1:n.2101G>C
ENST00000568369.6:c.3531G>C	ENSP00000456829.1:p.Leu1177=
ENST00000568983.6:n.550G>C
ENST00000696274.1:n.3492G>C
ENST00000696275.1:c.*2766G>C	ENSP00000512517.1:n.*2766G>C
ENST00000696286.1:c.3531G>C	ENSP00000512523.1:p.Leu1177=
ENST00000696287.1:c.3402G>C	ENSP00000512524.1:p.Leu1134=
ENST00000696291.1:c.*2963G>C	ENSP00000512530.1:n.*2963G>C
ENST00000389301.8:c.3531G>C MANE Select	ENSP00000373952.3:p.Leu1177=
ENST00000305699.15:n.774G>C
ENST00000389301.7:c.3531G>C	ENSP00000373952.3:p.Leu1177=
ENST00000561660.1:c.735G>C
ENST00000567879.5:c.9G>C	ENSP00000457006.1:p.Leu3=
ENST00000567988.5:c.783G>C
ENST00000568369.5:c.3531G>C	ENSP00000456829.1:p.Leu1177=
ENST00000568626.1:c.379G>C
ENST00000568983.5:n.359G>C
NM_000135.2:c.3531G>C , LRG_495t1:c.3531G>C	NP_000126.2:p.Leu1177=
NM_001286167.1:c.3531G>C	NP_001273096.1:p.Leu1177=
XM_005256294.3:c.3531G>C	XP_005256351.1:p.Leu1177=
XM_011522945.1:c.3402G>C	XP_011521247.1:p.Leu1134=
XM_011522946.1:c.2508G>C	XP_011521248.1:p.Leu836=
XM_011522947.1:c.2508G>C	XP_011521249.1:p.Leu836=
XR_933244.1:n.3574G>C
XR_933245.1:n.3574G>C
XR_933246.1:n.3401G>C
NM_000135.3:c.3531G>C	NP_000126.2:p.Leu1177=
NM_001286167.2:c.3531G>C	NP_001273096.1:p.Leu1177=
XM_005256294.4:c.3531G>C	XP_005256351.1:p.Leu1177=
XM_011522945.2:c.3402G>C	XP_011521247.1:p.Leu1134=
XM_011522946.3:c.2508G>C	XP_011521248.1:p.Leu836=
XM_011522947.2:c.2508G>C	XP_011521249.1:p.Leu836=
XM_017023044.2:c.3402G>C	XP_016878533.1:p.Leu1134=
XM_024450189.1:c.2508G>C	XP_024305957.1:p.Leu836=
XR_001751866.1:n.3401G>C
XR_933244.2:n.3574G>C
XR_933245.2:n.3574G>C
NM_000135.4:c.3531G>C MANE Select	NP_000126.2:p.Leu1177=
NM_001286167.3:c.3531G>C	NP_001273096.1:p.Leu1177=