Canonical Allele Identifier: CA3771389

Gene: FANCE

Linked Data

• ClinVar Variation Id: 981873
• ClinVar RCV Id: RCV001374563
• dbSNP Id: rs371485747
• ExAC: 6:35423604 C / T
• gnomAD v2: 6-35423604-C-T
• gnomAD v3: 6-35455827-C-T
• gnomAD v4: 6-35455827-C-T
• MyVariant Identifiers: chr6:g.35423604C>T (hg19) ; chr6:g.35455827C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35455827C>T , CM000668.2:g.35455827C>T	GRCh38
NC_000006.11:g.35423604C>T , CM000668.1:g.35423604C>T	GRCh37
NC_000006.10:g.35531582C>T	NCBI36
NG_011708.1:g.8467C>T , LRG_498:g.8467C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696264.1:c.329C>T	ENSP00000512511.1:p.Pro110Leu
ENST00000696265.1:c.329C>T	ENSP00000512512.1:p.Pro110Leu
ENST00000696266.1:c.47C>T	ENSP00000512513.1:p.Pro16Leu
ENST00000229769.3:c.329C>T MANE Select	ENSP00000229769.2:p.Pro110Leu
ENST00000648059.1:c.329C>T	ENSP00000497902.1:p.Pro110Leu
ENST00000229769.2:c.329C>T	ENSP00000229769.2:p.Pro110Leu
NM_021922.2:c.329C>T , LRG_498t1:c.329C>T	NP_068741.1:p.Pro110Leu
XM_005248885.2:c.329C>T	XP_005248942.1:p.Pro110Leu
XM_005248886.2:c.329C>T	XP_005248943.1:p.Pro110Leu
XM_005248887.2:c.329C>T	XP_005248944.1:p.Pro110Leu
XM_005248888.2:c.329C>T	XP_005248945.1:p.Pro110Leu
XM_011514343.1:c.35C>T	XP_011512645.1:p.Pro12Leu
XM_011514344.1:c.35C>T	XP_011512646.1:p.Pro12Leu
XM_005248888.3:c.329C>T	XP_005248945.1:p.Pro110Leu
XM_011514343.2:c.35C>T	XP_011512645.1:p.Pro12Leu
XR_001743226.1:n.536C>T
XR_002956267.1:n.536C>T
NM_021922.3:c.329C>T MANE Select	NP_068741.1:p.Pro110Leu