Canonical Allele Identifier: CA363773424

Gene: FANCE

Linked Data

• gnomAD v4: 6-35456144-G-A
• MyVariant Identifiers: chr6:g.35423921G>A (hg19) ; chr6:g.35456144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456144G>A , CM000668.2:g.35456144G>A	GRCh38
NC_000006.11:g.35423921G>A , CM000668.1:g.35423921G>A	GRCh37
NC_000006.10:g.35531899G>A	NCBI36
NG_011708.1:g.8784G>A , LRG_498:g.8784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.646G>A	ENSP00000512511.1:p.Val216Ile
ENST00000696265.1:c.646G>A	ENSP00000512512.1:p.Val216Ile
ENST00000696266.1:c.364G>A	ENSP00000512513.1:p.Val122Ile
ENST00000696267.1:n.286G>A
ENST00000229769.3:c.646G>A MANE Select	ENSP00000229769.2:p.Val216Ile
ENST00000648059.1:c.646G>A	ENSP00000497902.1:p.Val216Ile
ENST00000229769.2:c.646G>A	ENSP00000229769.2:p.Val216Ile
NM_021922.2:c.646G>A , LRG_498t1:c.646G>A	NP_068741.1:p.Val216Ile
XM_005248885.2:c.646G>A	XP_005248942.1:p.Val216Ile
XM_005248886.2:c.646G>A	XP_005248943.1:p.Val216Ile
XM_005248887.2:c.646G>A	XP_005248944.1:p.Val216Ile
XM_005248888.2:c.646G>A	XP_005248945.1:p.Val216Ile
XM_011514343.1:c.352G>A	XP_011512645.1:p.Val118Ile
XM_011514344.1:c.352G>A	XP_011512646.1:p.Val118Ile
XM_005248888.3:c.646G>A	XP_005248945.1:p.Val216Ile
XM_011514343.2:c.352G>A	XP_011512645.1:p.Val118Ile
XR_001743226.1:n.853G>A
XR_002956267.1:n.853G>A
NM_021922.3:c.646G>A MANE Select	NP_068741.1:p.Val216Ile