Canonical Allele Identifier: CA1670891

Gene: FANCL

Linked Data

• ClinVar Variation Id: 336659
• ClinVar RCV Id: RCV000267177 ; RCV003950164
• dbSNP Id: rs780348127
• ExAC: 2:58468492 G / A
• gnomAD v2: 2-58468492-G-A
• gnomAD v3: 2-58241357-G-A
• gnomAD v4: 2-58241357-G-A
• MyVariant Identifiers: chr2:g.58468492G>A (hg19) ; chr2:g.58241357G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.58241357G>A , CM000664.2:g.58241357G>A	GRCh38
NC_000002.11:g.58468492G>A , CM000664.1:g.58468492G>A	GRCh37
NC_000002.10:g.58321996G>A	NCBI36
NG_007418.1:g.5023C>T , LRG_501:g.5023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402135.8:c.-44C>T	ENSP00000385021.3:n.-44C>T
ENST00000403676.6:c.-44C>T	ENSP00000384046.2:n.-44C>T
ENST00000449070.6:c.-44C>T	ENSP00000401280.2:n.-44C>T
ENST00000470506.2:n.16C>T
ENST00000696305.1:c.-44C>T	ENSP00000512543.1:n.-44C>T
ENST00000696319.1:c.-44C>T	ENSP00000512557.1:n.-44C>T
ENST00000696326.1:c.-44C>T	ENSP00000512562.1:n.-44C>T
ENST00000696341.1:n.25C>T
ENST00000696373.1:c.-44C>T	ENSP00000512587.1:n.-44C>T
ENST00000696377.1:n.21C>T
ENST00000696379.1:c.-44C>T	ENSP00000512590.1:n.-44C>T
ENST00000696399.1:n.8C>T
ENST00000696400.1:c.-44C>T	ENSP00000512605.1:n.-44C>T
ENST00000696411.1:n.25C>T
ENST00000696530.1:c.-44C>T	ENSP00000512692.1:n.-44C>T
ENST00000449070.5:c.-44C>T	ENSP00000401280.1:n.-44C>T
NM_001114636.1:c.-44C>T , LRG_501t1:c.-44C>T	NP_001108108.1:n.-44C>T
NM_018062.3:c.-44C>T , LRG_501t2:c.-44C>T	NP_060532.2:n.-44C>T
XM_005264395.2:c.-44C>T	XP_005264452.1:n.-44C>T
XM_011532939.1:c.-44C>T	XP_011531241.1:n.-44C>T
XM_011532940.1:c.-44C>T	XP_011531242.1:n.-44C>T
XM_011532941.1:c.-44C>T	XP_011531243.1:n.-44C>T
XM_011532942.1:c.-44C>T	XP_011531244.1:n.-44C>T
XM_011532943.1:c.215C>T	XP_011531245.1:p.Pro72Leu
XR_939692.1:n.24C>T
NR_156742.1:n.24C>T
XM_005264395.4:c.-44C>T	XP_005264452.1:n.-44C>T
XM_011532939.3:c.-44C>T	XP_011531241.1:n.-44C>T
XM_011532940.3:c.-44C>T	XP_011531242.1:n.-44C>T
XM_011532941.2:c.-44C>T	XP_011531243.1:n.-44C>T
XM_011532942.3:c.-44C>T	XP_011531244.1:n.-44C>T
XM_017004414.2:c.-44C>T	XP_016859903.1:n.-44C>T
XM_017004415.2:c.-44C>T	XP_016859904.1:n.-44C>T
XM_017004416.1:c.-117C>T	XP_016859905.1:n.-117C>T
XR_001738802.2:n.16C>T
XR_001738803.2:n.16C>T
XR_002959309.1:n.325C>T
XR_939692.2:n.16C>T