Canonical Allele Identifier: CA5006387

Gene: FOCAD

Linked Data

• ClinVar Variation Id: 402871
• ClinVar RCV Id: RCV000455620 ; RCV001653792 ; RCV003972705
• dbSNP Id: rs10511687
• ExAC: 9:20764870 T / C
• gnomAD v2: 9-20764870-T-C
• gnomAD v3: 9-20764871-T-C
• gnomAD v4: 9-20764871-T-C
• MyVariant Identifiers: chr9:g.20764870T>C (hg19) ; chr9:g.20764871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.20764871T>C , CM000671.2:g.20764871T>C	GRCh38
NC_000009.11:g.20764870T>C , CM000671.1:g.20764870T>C	GRCh37
NC_000009.10:g.20754870T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338382.11:c.497T>C MANE Select	ENSP00000344307.6:p.Leu166Ser
ENST00000338382.10:c.497T>C	ENSP00000344307.6:p.Leu166Ser
ENST00000380249.5:c.497T>C	ENSP00000369599.1:p.Leu166Ser
ENST00000604103.1:n.290-3T>C
ENST00000605031.5:n.273T>C
NM_017794.4:c.497T>C	NP_060264.4:p.Leu166Ser
XM_005251494.3:c.497T>C	XP_005251551.2:p.Leu166Ser
XM_011517944.1:c.497T>C	XP_011516246.1:p.Leu166Ser
XM_011517945.1:c.392T>C	XP_011516247.1:p.Leu131Ser
XM_011517946.1:c.497T>C	XP_011516248.1:p.Leu166Ser
XM_011517947.1:c.497T>C	XP_011516249.1:p.Leu166Ser
XM_011517948.1:c.497T>C	XP_011516250.1:p.Leu166Ser
XM_005251494.4:c.497T>C	XP_005251551.2:p.Leu166Ser
XM_011517945.2:c.392T>C	XP_011516247.1:p.Leu131Ser
XM_017014852.1:c.578T>C	XP_016870341.1:p.Leu193Ser
XM_017014853.1:c.578T>C	XP_016870342.1:p.Leu193Ser
XM_017014854.1:c.473T>C	XP_016870343.1:p.Leu158Ser
XM_017014855.1:c.578T>C	XP_016870344.1:p.Leu193Ser
XM_017014856.1:c.578T>C	XP_016870345.1:p.Leu193Ser
XM_017014857.2:c.497T>C	XP_016870346.1:p.Leu166Ser
XM_017014858.2:c.392T>C	XP_016870347.1:p.Leu131Ser
XM_017014859.1:c.-23T>C	XP_016870348.1:n.-23T>C
XM_024447585.1:c.497T>C	XP_024303353.1:p.Leu166Ser
XM_024447586.1:c.182T>C	XP_024303354.1:p.Leu61Ser
NM_001375567.1:c.497T>C MANE Select	NP_001362496.1:p.Leu166Ser
NM_001375568.1:c.497T>C	NP_001362497.1:p.Leu166Ser
NM_001375570.1:c.392T>C	NP_001362499.1:p.Leu131Ser
NM_017794.5:c.497T>C	NP_060264.4:p.Leu166Ser