Canonical Allele Identifier: CA381087003
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220246G>T , CM000673.2:g.64220246G>T GRCh38
NC_000011.9:g.63987718G>T , CM000673.1:g.63987718G>T GRCh37
NC_000011.8:g.63744294G>T NCBI36
NG_016360.1:g.18567G>T , LRG_180:g.18567G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1243G>T ENSP00000279227.5:p.Val415Phe
ENST00000540554.2:n.2300G>T
ENST00000541252.2:c.691G>T ENSP00000438885.2:p.Val231Phe
ENST00000541326.6:n.543G>T
ENST00000544997.6:c.1231G>T ENSP00000445778.2:p.Val411Phe
ENST00000546255.2:n.1426G>T
ENST00000698845.1:c.*426G>T ENSP00000513981.1:n.*426G>T
ENST00000698846.1:n.1368G>T
ENST00000698847.1:c.*636G>T ENSP00000513982.1:n.*636G>T
ENST00000698848.1:n.420G>T
ENST00000698849.1:n.351G>T
ENST00000698850.1:n.890G>T
ENST00000698852.1:c.1231G>T ENSP00000513984.1:p.Val411Phe
ENST00000698853.1:c.*460G>T ENSP00000513985.1:n.*460G>T
ENST00000698854.1:c.*561G>T ENSP00000513986.1:n.*561G>T
ENST00000698855.1:n.2883G>T
ENST00000698856.1:n.2468G>T
ENST00000698859.1:n.1395G>T
ENST00000698860.1:c.1243G>T ENSP00000513988.1:p.Val415Phe
ENST00000698861.1:c.1231G>T ENSP00000513989.1:p.Val411Phe
ENST00000698862.1:c.*527G>T ENSP00000513990.1:n.*527G>T
ENST00000698863.1:c.1231G>T ENSP00000513991.1:p.Val411Phe
ENST00000698864.1:n.1337G>T
ENST00000698865.1:c.1252G>T ENSP00000513992.1:p.Val418Phe
ENST00000698866.1:c.*636G>T ENSP00000513993.1:n.*636G>T
ENST00000698867.1:n.5206G>T
ENST00000698868.1:c.1096G>T ENSP00000513994.1:p.Val366Phe
ENST00000698869.1:c.1231G>T ENSP00000513995.1:p.Val411Phe
ENST00000698870.1:c.1231G>T ENSP00000513996.1:p.Val411Phe
ENST00000698871.1:n.1754G>T
ENST00000698872.1:c.*20G>T ENSP00000513997.1:n.*20G>T
ENST00000698873.1:c.*426G>T ENSP00000513998.1:n.*426G>T
ENST00000698874.1:c.691G>T ENSP00000513999.1:p.Val231Phe
ENST00000698875.1:n.1091G>T
ENST00000698876.1:n.1170G>T
ENST00000698877.1:n.799G>T
ENST00000698878.1:c.1231G>T ENSP00000514000.1:p.Val411Phe
ENST00000698880.1:c.1071G>T
ENST00000345728.10:c.1231G>T MANE Select ENSP00000339950.5:p.Val411Phe
ENST00000279227.9:c.1243G>T ENSP00000279227.5:p.Val415Phe
ENST00000345728.9:c.1231G>T ENSP00000339950.5:p.Val411Phe
ENST00000540957.1:n.384G>T
ENST00000541326.5:n.538G>T
NM_031471.5:c.1231G>T NP_113659.3:p.Val411Phe
NM_178443.2:c.1243G>T , LRG_180t1:c.1243G>T NP_848537.1:p.Val415Phe
XM_011545294.1:c.1243G>T XP_011543596.1:p.Val415Phe
XM_011545295.1:c.703G>T XP_011543597.1:p.Val235Phe
XM_011545296.1:c.703G>T XP_011543598.1:p.Val235Phe
XM_011545294.3:c.1243G>T XP_011543596.1:p.Val415Phe
XM_011545295.2:c.703G>T XP_011543597.1:p.Val235Phe
XM_017018398.2:c.1231G>T XP_016873887.1:p.Val411Phe
XM_017018399.1:c.691G>T XP_016873888.1:p.Val231Phe
NM_031471.6:c.1231G>T MANE Select NP_113659.3:p.Val411Phe
NM_001382361.1:c.1231G>T NP_001369290.1:p.Val411Phe
NM_001382362.1:c.1243G>T NP_001369291.1:p.Val415Phe
NM_001382363.1:c.691G>T NP_001369292.1:p.Val231Phe
NM_001382364.1:c.703G>T NP_001369293.1:p.Val235Phe
NM_001382448.1:c.1231G>T NP_001369377.1:p.Val411Phe
NM_178443.3:c.1243G>T NP_848537.1:p.Val415Phe