Canonical Allele Identifier: CA13082949

Gene: FOCAD

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.20765206A>G , CM000671.2:g.20765206A>G	GRCh38
NC_000009.11:g.20765205A>G , CM000671.1:g.20765205A>G	GRCh37
NC_000009.10:g.20755205A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001375567.1:c.699+133A>G MANE Select	NP_001362496.1:n.699+133A>G
ENST00000338382.11:c.699+133A>G MANE Select	ENSP00000344307.6:n.699+133A>G
NM_001375568.1:c.699+133A>G	NP_001362497.1:n.699+133A>G
NM_001375570.1:c.594+133A>G	NP_001362499.1:n.594+133A>G
NM_017794.4:c.699+133A>G	NP_060264.4:n.699+133A>G
NM_017794.5:c.699+133A>G	NP_060264.4:n.699+133A>G
ENST00000338382.10:c.699+133A>G	ENSP00000344307.6:n.699+133A>G
ENST00000380249.5:c.699+133A>G	ENSP00000369599.1:n.699+133A>G
ENST00000604103.1:n.489+133A>G
ENST00000605031.5:n.475+133A>G
XM_005251494.3:c.699+133A>G	XP_005251551.2:n.699+133A>G
XM_005251494.4:c.699+133A>G	XP_005251551.2:n.699+133A>G
XM_011517944.1:c.699+133A>G	XP_011516246.1:n.699+133A>G
XM_011517945.1:c.594+133A>G	XP_011516247.1:n.594+133A>G
XM_011517945.2:c.594+133A>G	XP_011516247.1:n.594+133A>G
XM_011517946.1:c.699+133A>G	XP_011516248.1:n.699+133A>G
XM_011517947.1:c.699+133A>G	XP_011516249.1:n.699+133A>G
XM_011517948.1:c.699+133A>G	XP_011516250.1:n.699+133A>G
XM_017014852.1:c.780+133A>G	XP_016870341.1:n.780+133A>G
XM_017014853.1:c.780+133A>G	XP_016870342.1:n.780+133A>G
XM_017014854.1:c.675+133A>G	XP_016870343.1:n.675+133A>G
XM_017014855.1:c.780+133A>G	XP_016870344.1:n.780+133A>G
XM_017014856.1:c.780+133A>G	XP_016870345.1:n.780+133A>G
XM_017014857.2:c.699+133A>G	XP_016870346.1:n.699+133A>G
XM_017014858.2:c.594+133A>G	XP_016870347.1:n.594+133A>G
XM_017014859.1:c.180+133A>G	XP_016870348.1:n.180+133A>G
XM_024447585.1:c.699+133A>G	XP_024303353.1:n.699+133A>G
XM_024447586.1:c.384+133A>G	XP_024303354.1:n.384+133A>G