Canonical Allele Identifier: CA190542129

Gene: FOCAD

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.20720600A>C , CM000671.2:g.20720600A>C	GRCh38
NC_000009.11:g.20720599A>C , CM000671.1:g.20720599A>C	GRCh37
NC_000009.10:g.20710599A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001375567.1:c.287+66A>C MANE Select	NP_001362496.1:n.287+66A>C
ENST00000338382.11:c.287+66A>C MANE Select	ENSP00000344307.6:n.287+66A>C
NM_001375568.1:c.287+66A>C	NP_001362497.1:n.287+66A>C
NM_001375570.1:c.287+66A>C	NP_001362499.1:n.287+66A>C
NM_017794.4:c.287+66A>C	NP_060264.4:n.287+66A>C
NM_017794.5:c.287+66A>C	NP_060264.4:n.287+66A>C
ENST00000338382.10:c.287+66A>C	ENSP00000344307.6:n.287+66A>C
ENST00000380249.5:c.287+66A>C	ENSP00000369599.1:n.287+66A>C
XM_005251494.3:c.287+66A>C	XP_005251551.2:n.287+66A>C
XM_005251494.4:c.287+66A>C	XP_005251551.2:n.287+66A>C
XM_011517944.1:c.287+66A>C	XP_011516246.1:n.287+66A>C
XM_011517945.1:c.287+66A>C	XP_011516247.1:n.287+66A>C
XM_011517945.2:c.287+66A>C	XP_011516247.1:n.287+66A>C
XM_011517946.1:c.287+66A>C	XP_011516248.1:n.287+66A>C
XM_011517947.1:c.287+66A>C	XP_011516249.1:n.287+66A>C
XM_011517948.1:c.287+66A>C	XP_011516250.1:n.287+66A>C
XM_017014852.1:c.368+66A>C	XP_016870341.1:n.368+66A>C
XM_017014853.1:c.368+66A>C	XP_016870342.1:n.368+66A>C
XM_017014854.1:c.368+66A>C	XP_016870343.1:n.368+66A>C
XM_017014855.1:c.368+66A>C	XP_016870344.1:n.368+66A>C
XM_017014856.1:c.368+66A>C	XP_016870345.1:n.368+66A>C
XM_017014857.2:c.287+66A>C	XP_016870346.1:n.287+66A>C
XM_017014858.2:c.287+66A>C	XP_016870347.1:n.287+66A>C
XM_024447585.1:c.287+66A>C	XP_024303353.1:n.287+66A>C