Canonical Allele Identifier: CA5414834
Gene: FRMD4A HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13796604A>G , CM000672.2:g.13796604A>G GRCh38
NC_000010.10:g.13838604A>G , CM000672.1:g.13838604A>G GRCh37
NC_000010.9:g.13878610A>G NCBI36
NG_047164.1:g.539264T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000495956.3:c.207-16T>C ENSP00000488764.2:n.207-16T>C
ENST00000357447.7:c.207-16T>C MANE Select ENSP00000350032.2:n.207-16T>C
ENST00000640906.1:c.255-16T>C ENSP00000492091.1:n.255-16T>C
ENST00000264546.10:c.306-16T>C ENSP00000264546.6:n.306-16T>C
ENST00000342409.3:n.636-16T>C
ENST00000357447.6:c.207-16T>C ENSP00000350032.2:n.207-16T>C
ENST00000358621.8:c.162-16T>C ENSP00000351438.4:n.162-16T>C
NM_018027.3:c.207-16T>C NP_060497.3:n.207-16T>C
XM_005252489.2:c.306-16T>C XP_005252546.1:n.306-16T>C
XM_005252490.2:c.255-16T>C XP_005252547.1:n.255-16T>C
XM_006717457.2:c.306-16T>C XP_006717520.1:n.306-16T>C
XM_006717458.2:c.306-16T>C XP_006717521.1:n.306-16T>C
XM_006717459.2:c.306-16T>C XP_006717522.1:n.306-16T>C
XM_006717460.2:c.306-16T>C XP_006717523.1:n.306-16T>C
XM_006717461.1:c.306-16T>C XP_006717524.1:n.306-16T>C
XM_006717462.2:c.162-16T>C XP_006717525.1:n.162-16T>C
XM_011519539.1:c.255-16T>C XP_011517841.1:n.255-16T>C
XM_011519540.1:c.306-16T>C XP_011517842.1:n.306-16T>C
XM_011519541.1:c.306-16T>C XP_011517843.1:n.306-16T>C
XM_011519542.1:c.177-16T>C XP_011517844.1:n.177-16T>C
XM_011519543.1:c.207-16T>C XP_011517845.1:n.207-16T>C
XM_011519544.1:c.162-16T>C XP_011517846.1:n.162-16T>C
XM_011519545.1:c.162-16T>C XP_011517847.1:n.162-16T>C
XM_011519546.1:c.207-16T>C XP_011517848.1:n.207-16T>C
NM_001318336.1:c.255-16T>C NP_001305265.1:n.255-16T>C
NM_001318337.1:c.306-16T>C NP_001305266.1:n.306-16T>C
NM_018027.4:c.207-16T>C NP_060497.3:n.207-16T>C
XM_005252489.3:c.306-16T>C XP_005252546.1:n.306-16T>C
XM_005252490.3:c.255-16T>C XP_005252547.1:n.255-16T>C
XM_006717457.3:c.306-16T>C XP_006717520.1:n.306-16T>C
XM_006717458.4:c.306-16T>C XP_006717521.1:n.306-16T>C
XM_006717459.3:c.306-16T>C XP_006717522.1:n.306-16T>C
XM_006717460.3:c.306-16T>C XP_006717523.1:n.306-16T>C
XM_011519539.2:c.255-16T>C XP_011517841.1:n.255-16T>C
XM_011519540.2:c.306-16T>C XP_011517842.1:n.306-16T>C
XM_011519541.2:c.306-16T>C XP_011517843.1:n.306-16T>C
XM_011519543.3:c.207-16T>C XP_011517845.1:n.207-16T>C
XM_017016393.2:c.306-16T>C XP_016871882.1:n.306-16T>C
XM_017016394.2:c.207-16T>C XP_016871883.1:n.207-16T>C
XM_017016395.2:c.195-16T>C XP_016871884.1:n.195-16T>C
XM_024448067.1:c.228-16T>C XP_024303835.1:n.228-16T>C
XM_024448068.1:c.195-16T>C XP_024303836.1:n.195-16T>C
XM_024448069.1:c.162-16T>C XP_024303837.1:n.162-16T>C
XM_024448070.1:c.162-16T>C XP_024303838.1:n.162-16T>C
XM_024448071.1:c.195-16T>C XP_024303839.1:n.195-16T>C
NM_018027.5:c.207-16T>C MANE Select NP_060497.3:n.207-16T>C
NM_001318336.2:c.255-16T>C NP_001305265.1:n.255-16T>C
NM_001318337.2:c.306-16T>C NP_001305266.1:n.306-16T>C