Canonical Allele Identifier: CA2352365

Gene: FYCO1

Linked Data

• ClinVar Variation Id: 1045350
• ClinVar RCV Id: RCV001349743
• dbSNP Id: rs776739152
• ExAC: 3:45972595 C / T
• gnomAD v2: 3-45972595-C-T
• gnomAD v3: 3-45931103-C-T
• gnomAD v4: 3-45931103-C-T
• MyVariant Identifiers: chr3:g.45972595C>T (hg19) ; chr3:g.45931103C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45931103C>T , CM000665.2:g.45931103C>T	GRCh38
NC_000003.11:g.45972595C>T , CM000665.1:g.45972595C>T	GRCh37
NC_000003.10:g.45947599C>T	NCBI36
NG_031955.1:g.69722G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691721.1:n.352G>A
ENST00000296137.7:c.4219G>A MANE Select	ENSP00000296137.2:p.Glu1407Lys
ENST00000296137.6:c.4219G>A	ENSP00000296137.2:p.Glu1407Lys
ENST00000433878.5:c.585G>A
ENST00000438446.1:c.232G>A	ENSP00000398517.1:p.Glu78Lys
ENST00000535325.5:c.4279G>A	ENSP00000441178.1:p.Glu1427Lys
NM_024513.3:c.4219G>A	NP_078789.2:p.Glu1407Lys
XM_006713333.2:c.4219G>A	XP_006713396.1:p.Glu1407Lys
XM_006713334.2:c.4219G>A	XP_006713397.1:p.Glu1407Lys
XM_011534111.1:c.4219G>A	XP_011532413.1:p.Glu1407Lys
XM_011534112.1:c.4219G>A	XP_011532414.1:p.Glu1407Lys
XR_245157.1:n.4434G>A
XM_006713333.3:c.4219G>A	XP_006713396.1:p.Glu1407Lys
XM_006713334.3:c.4219G>A	XP_006713397.1:p.Glu1407Lys
XM_011534111.3:c.4219G>A	XP_011532413.1:p.Glu1407Lys
XR_001740265.1:n.4315G>A
NM_024513.4:c.4219G>A MANE Select	NP_078789.2:p.Glu1407Lys
NM_001386421.1:c.4219G>A	NP_001373350.1:p.Glu1407Lys
NM_001386422.1:c.4219G>A	NP_001373351.1:p.Glu1407Lys
NM_001386423.1:c.4216G>A	NP_001373352.1:p.Glu1406Lys
NM_001386424.1:c.4219G>A	NP_001373353.1:p.Glu1407Lys
NM_001386425.1:c.4219G>A	NP_001373354.1:p.Glu1407Lys
NM_001386426.1:c.4099G>A	NP_001373355.1:p.Glu1367Lys
NM_001386427.1:c.4075G>A	NP_001373356.1:p.Glu1359Lys
NM_001386428.1:c.4219G>A	NP_001373357.1:p.Glu1407Lys
NM_001386429.1:c.4219G>A	NP_001373358.1:p.Glu1407Lys
NM_001386430.1:c.3619G>A	NP_001373359.1:p.Glu1207Lys
NR_170107.1:n.4434G>A