Canonical Allele Identifier: CA1670887

Gene: FANCL

Linked Data

• ClinVar Variation Id: 336657
• ClinVar RCV Id: RCV000302641 ; RCV003932338
• dbSNP Id: rs41281511
• ExAC: 2:58468487 T / G
• gnomAD v2: 2-58468487-T-G
• gnomAD v3: 2-58241352-T-G
• gnomAD v4: 2-58241352-T-G
• MyVariant Identifiers: chr2:g.58468487T>G (hg19) ; chr2:g.58241352T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.58241352T>G , CM000664.2:g.58241352T>G	GRCh38
NC_000002.11:g.58468487T>G , CM000664.1:g.58468487T>G	GRCh37
NC_000002.10:g.58321991T>G	NCBI36
NG_007418.1:g.5028A>C , LRG_501:g.5028A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402135.8:c.-39A>C	ENSP00000385021.3:n.-39A>C
ENST00000403676.6:c.-39A>C	ENSP00000384046.2:n.-39A>C
ENST00000449070.6:c.-39A>C	ENSP00000401280.2:n.-39A>C
ENST00000470506.2:n.21A>C
ENST00000696305.1:c.-39A>C	ENSP00000512543.1:n.-39A>C
ENST00000696306.1:c.-39A>C	ENSP00000512544.1:n.-39A>C
ENST00000696319.1:c.-39A>C	ENSP00000512557.1:n.-39A>C
ENST00000696325.1:n.1A>C
ENST00000696326.1:c.-39A>C	ENSP00000512562.1:n.-39A>C
ENST00000696341.1:n.30A>C
ENST00000696342.1:c.-39A>C	ENSP00000512569.1:n.-39A>C
ENST00000696373.1:c.-39A>C	ENSP00000512587.1:n.-39A>C
ENST00000696377.1:n.26A>C
ENST00000696379.1:c.-39A>C	ENSP00000512590.1:n.-39A>C
ENST00000696398.1:c.-39A>C	ENSP00000512604.1:n.-39A>C
ENST00000696399.1:n.13A>C
ENST00000696400.1:c.-39A>C	ENSP00000512605.1:n.-39A>C
ENST00000696411.1:n.30A>C
ENST00000696438.1:c.-39A>C	ENSP00000512630.1:n.-39A>C
ENST00000696496.1:n.1A>C
ENST00000696530.1:c.-39A>C	ENSP00000512692.1:n.-39A>C
ENST00000449070.5:c.-39A>C	ENSP00000401280.1:n.-39A>C
NM_001114636.1:c.-39A>C , LRG_501t1:c.-39A>C	NP_001108108.1:n.-39A>C
NM_018062.3:c.-39A>C , LRG_501t2:c.-39A>C	NP_060532.2:n.-39A>C
XM_005264395.2:c.-39A>C	XP_005264452.1:n.-39A>C
XM_011532939.1:c.-39A>C	XP_011531241.1:n.-39A>C
XM_011532940.1:c.-39A>C	XP_011531242.1:n.-39A>C
XM_011532941.1:c.-39A>C	XP_011531243.1:n.-39A>C
XM_011532942.1:c.-39A>C	XP_011531244.1:n.-39A>C
XM_011532943.1:c.220A>C	XP_011531245.1:p.Arg74=
XR_939692.1:n.29A>C
NR_156742.1:n.29A>C
XM_005264395.4:c.-39A>C	XP_005264452.1:n.-39A>C
XM_011532939.3:c.-39A>C	XP_011531241.1:n.-39A>C
XM_011532940.3:c.-39A>C	XP_011531242.1:n.-39A>C
XM_011532941.2:c.-39A>C	XP_011531243.1:n.-39A>C
XM_011532942.3:c.-39A>C	XP_011531244.1:n.-39A>C
XM_017004414.2:c.-39A>C	XP_016859903.1:n.-39A>C
XM_017004415.2:c.-39A>C	XP_016859904.1:n.-39A>C
XM_017004416.1:c.-112A>C	XP_016859905.1:n.-112A>C
XR_001738802.2:n.21A>C
XR_001738803.2:n.21A>C
XR_002959309.1:n.330A>C
XR_939692.2:n.21A>C