Canonical Allele Identifier: CA159528

Gene: FANCE

Linked Data

• ClinVar Variation Id: 134333
• ClinVar RCV Id: RCV000121007 ; RCV000467840 ; RCV001194802
• dbSNP Id: rs7761870
• ExAC: 6:35423886 C / T
• gnomAD v2: 6-35423886-C-T
• gnomAD v3: 6-35456109-C-T
• gnomAD v4: 6-35456109-C-T
• MyVariant Identifiers: chr6:g.35423886C>T (hg19) ; chr6:g.35456109C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456109C>T , CM000668.2:g.35456109C>T	GRCh38
NC_000006.11:g.35423886C>T , CM000668.1:g.35423886C>T	GRCh37
NC_000006.10:g.35531864C>T	NCBI36
NG_011708.1:g.8749C>T , LRG_498:g.8749C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.611C>T	ENSP00000512511.1:p.Ser204Leu
ENST00000696265.1:c.611C>T	ENSP00000512512.1:p.Ser204Leu
ENST00000696266.1:c.329C>T	ENSP00000512513.1:p.Ser110Leu
ENST00000696267.1:n.251C>T
ENST00000229769.3:c.611C>T MANE Select	ENSP00000229769.2:p.Ser204Leu
ENST00000648059.1:c.611C>T	ENSP00000497902.1:p.Ser204Leu
ENST00000229769.2:c.611C>T	ENSP00000229769.2:p.Ser204Leu
NM_021922.2:c.611C>T , LRG_498t1:c.611C>T	NP_068741.1:p.Ser204Leu
XM_005248885.2:c.611C>T	XP_005248942.1:p.Ser204Leu
XM_005248886.2:c.611C>T	XP_005248943.1:p.Ser204Leu
XM_005248887.2:c.611C>T	XP_005248944.1:p.Ser204Leu
XM_005248888.2:c.611C>T	XP_005248945.1:p.Ser204Leu
XM_011514343.1:c.317C>T	XP_011512645.1:p.Ser106Leu
XM_011514344.1:c.317C>T	XP_011512646.1:p.Ser106Leu
XM_005248888.3:c.611C>T	XP_005248945.1:p.Ser204Leu
XM_011514343.2:c.317C>T	XP_011512645.1:p.Ser106Leu
XR_001743226.1:n.818C>T
XR_002956267.1:n.818C>T
NM_021922.3:c.611C>T MANE Select	NP_068741.1:p.Ser204Leu