Canonical Allele Identifier: CA15585626
Gene: FOCAD HGNC NCBI

Linked Data

dbSNP Id: rs10964759
gnomAD v2: 9-20925921-A-G
gnomAD v3: 9-20925922-A-G
gnomAD v4: 9-20925922-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.20925922A>G , CM000671.2:g.20925922A>G GRCh38
NC_000009.11:g.20925921A>G , CM000671.1:g.20925921A>G GRCh37
NC_000009.10:g.20915921A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000338382.11:c.2962-379A>G MANE Select ENSP00000344307.6:n.2962-379A>G
ENST00000338382.10:c.2962-379A>G ENSP00000344307.6:n.2962-379A>G
ENST00000380249.5:c.2962-379A>G ENSP00000369599.1:n.2962-379A>G
ENST00000605086.5:c.1270-379A>G ENSP00000474915.1:n.1270-379A>G
NM_017794.4:c.2962-379A>G NP_060264.4:n.2962-379A>G
XM_005251494.3:c.2962-379A>G XP_005251551.2:n.2962-379A>G
XM_011517944.1:c.2857-379A>G XP_011516246.1:n.2857-379A>G
XM_011517945.1:c.2857-379A>G XP_011516247.1:n.2857-379A>G
XM_011517946.1:c.2962-379A>G XP_011516248.1:n.2962-379A>G
XM_011517947.1:c.2962-379A>G XP_011516249.1:n.2962-379A>G
XM_011517948.1:c.2962-379A>G XP_011516250.1:n.2962-379A>G
XM_005251494.4:c.2962-379A>G XP_005251551.2:n.2962-379A>G
XM_011517945.2:c.2857-379A>G XP_011516247.1:n.2857-379A>G
XM_017014852.1:c.3043-379A>G XP_016870341.1:n.3043-379A>G
XM_017014853.1:c.2938-379A>G XP_016870342.1:n.2938-379A>G
XM_017014854.1:c.2938-379A>G XP_016870343.1:n.2938-379A>G
XM_017014855.1:c.3043-379A>G XP_016870344.1:n.3043-379A>G
XM_017014856.1:c.3043-379A>G XP_016870345.1:n.3043-379A>G
XM_017014857.2:c.2857-379A>G XP_016870346.1:n.2857-379A>G
XM_017014858.2:c.2857-379A>G XP_016870347.1:n.2857-379A>G
XM_017014859.1:c.2443-379A>G XP_016870348.1:n.2443-379A>G
XM_024447585.1:c.2857-379A>G XP_024303353.1:n.2857-379A>G
XM_024447586.1:c.2647-379A>G XP_024303354.1:n.2647-379A>G
NM_001375567.1:c.2962-379A>G MANE Select NP_001362496.1:n.2962-379A>G
NM_001375568.1:c.2857-379A>G NP_001362497.1:n.2857-379A>G
NM_001375570.1:c.2857-379A>G NP_001362499.1:n.2857-379A>G
NM_017794.5:c.2962-379A>G NP_060264.4:n.2962-379A>G