Canonical Allele Identifier: CA363773136

Gene: FANCE

Linked Data

• gnomAD v4: 6-35456048-C-G
• MyVariant Identifiers: chr6:g.35423825C>G (hg19) ; chr6:g.35456048C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456048C>G , CM000668.2:g.35456048C>G	GRCh38
NC_000006.11:g.35423825C>G , CM000668.1:g.35423825C>G	GRCh37
NC_000006.10:g.35531803C>G	NCBI36
NG_011708.1:g.8688C>G , LRG_498:g.8688C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.550C>G	ENSP00000512511.1:p.Pro184Ala
ENST00000696265.1:c.550C>G	ENSP00000512512.1:p.Pro184Ala
ENST00000696266.1:c.268C>G	ENSP00000512513.1:p.Pro90Ala
ENST00000696267.1:n.190C>G
ENST00000229769.3:c.550C>G MANE Select	ENSP00000229769.2:p.Pro184Ala
ENST00000648059.1:c.550C>G	ENSP00000497902.1:p.Pro184Ala
ENST00000229769.2:c.550C>G	ENSP00000229769.2:p.Pro184Ala
NM_021922.2:c.550C>G , LRG_498t1:c.550C>G	NP_068741.1:p.Pro184Ala
XM_005248885.2:c.550C>G	XP_005248942.1:p.Pro184Ala
XM_005248886.2:c.550C>G	XP_005248943.1:p.Pro184Ala
XM_005248887.2:c.550C>G	XP_005248944.1:p.Pro184Ala
XM_005248888.2:c.550C>G	XP_005248945.1:p.Pro184Ala
XM_011514343.1:c.256C>G	XP_011512645.1:p.Pro86Ala
XM_011514344.1:c.256C>G	XP_011512646.1:p.Pro86Ala
XM_005248888.3:c.550C>G	XP_005248945.1:p.Pro184Ala
XM_011514343.2:c.256C>G	XP_011512645.1:p.Pro86Ala
XR_001743226.1:n.757C>G
XR_002956267.1:n.757C>G
NM_021922.3:c.550C>G MANE Select	NP_068741.1:p.Pro184Ala