Canonical Allele Identifier: CA190615789

Gene: FOCAD

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.20953261G>T , CM000671.2:g.20953261G>T	GRCh38
NC_000009.11:g.20953260G>T , CM000671.1:g.20953260G>T	GRCh37
NC_000009.10:g.20943260G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001375567.1:c.4132+196G>T MANE Select	NP_001362496.1:n.4132+196G>T
ENST00000338382.11:c.4132+196G>T MANE Select	ENSP00000344307.6:n.4132+196G>T
NM_001375568.1:c.4027+196G>T	NP_001362497.1:n.4027+196G>T
NM_001375570.1:c.4027+196G>T	NP_001362499.1:n.4027+196G>T
NM_017794.4:c.4132+196G>T	NP_060264.4:n.4132+196G>T
NM_017794.5:c.4132+196G>T	NP_060264.4:n.4132+196G>T
ENST00000338382.10:c.4132+196G>T	ENSP00000344307.6:n.4132+196G>T
ENST00000380249.5:c.4132+196G>T	ENSP00000369599.1:n.4132+196G>T
ENST00000603631.1:n.177+196G>T
ENST00000605086.5:c.2440+196G>T	ENSP00000474915.1:n.2440+196G>T
XM_005251494.3:c.4132+196G>T	XP_005251551.2:n.4132+196G>T
XM_005251494.4:c.4132+196G>T	XP_005251551.2:n.4132+196G>T
XM_011517944.1:c.4027+196G>T	XP_011516246.1:n.4027+196G>T
XM_011517945.1:c.4027+196G>T	XP_011516247.1:n.4027+196G>T
XM_011517945.2:c.4027+196G>T	XP_011516247.1:n.4027+196G>T
XM_011517946.1:c.4132+196G>T	XP_011516248.1:n.4132+196G>T
XM_011517947.1:c.4131+197G>T	XP_011516249.1:n.4131+197G>T
XM_017014852.1:c.4213+196G>T	XP_016870341.1:n.4213+196G>T
XM_017014853.1:c.4108+196G>T	XP_016870342.1:n.4108+196G>T
XM_017014854.1:c.4108+196G>T	XP_016870343.1:n.4108+196G>T
XM_017014855.1:c.4213+196G>T	XP_016870344.1:n.4213+196G>T
XM_017014856.1:c.4213+196G>T	XP_016870345.1:n.4213+196G>T
XM_017014857.2:c.4027+196G>T	XP_016870346.1:n.4027+196G>T
XM_017014858.2:c.4027+196G>T	XP_016870347.1:n.4027+196G>T
XM_017014859.1:c.3613+196G>T	XP_016870348.1:n.3613+196G>T
XM_024447585.1:c.4027+196G>T	XP_024303353.1:n.4027+196G>T
XM_024447586.1:c.3817+196G>T	XP_024303354.1:n.3817+196G>T