Canonical Allele Identifier: CA381087037

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220256-A-G
• MyVariant Identifiers: chr11:g.63987728A>G (hg19) ; chr11:g.64220256A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220256A>G , CM000673.2:g.64220256A>G	GRCh38
NC_000011.9:g.63987728A>G , CM000673.1:g.63987728A>G	GRCh37
NC_000011.8:g.63744304A>G	NCBI36
NG_016360.1:g.18577A>G , LRG_180:g.18577A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1253A>G	ENSP00000279227.5:p.Gln418Arg
ENST00000540554.2:n.2310A>G
ENST00000541252.2:c.701A>G	ENSP00000438885.2:p.Gln234Arg
ENST00000541326.6:n.553A>G
ENST00000544997.6:c.1241A>G	ENSP00000445778.2:p.Gln414Arg
ENST00000546255.2:n.1436A>G
ENST00000698845.1:c.*436A>G	ENSP00000513981.1:n.*436A>G
ENST00000698846.1:n.1378A>G
ENST00000698847.1:c.*646A>G	ENSP00000513982.1:n.*646A>G
ENST00000698848.1:n.430A>G
ENST00000698849.1:n.361A>G
ENST00000698850.1:n.900A>G
ENST00000698852.1:c.1241A>G	ENSP00000513984.1:p.Gln414Arg
ENST00000698853.1:c.*470A>G	ENSP00000513985.1:n.*470A>G
ENST00000698854.1:c.*571A>G	ENSP00000513986.1:n.*571A>G
ENST00000698855.1:n.2893A>G
ENST00000698856.1:n.2478A>G
ENST00000698859.1:n.1405A>G
ENST00000698860.1:c.1253A>G	ENSP00000513988.1:p.Gln418Arg
ENST00000698861.1:c.1241A>G	ENSP00000513989.1:p.Gln414Arg
ENST00000698862.1:c.*537A>G	ENSP00000513990.1:n.*537A>G
ENST00000698863.1:c.1241A>G	ENSP00000513991.1:p.Gln414Arg
ENST00000698864.1:n.1347A>G
ENST00000698865.1:c.1262A>G	ENSP00000513992.1:p.Gln421Arg
ENST00000698866.1:c.*646A>G	ENSP00000513993.1:n.*646A>G
ENST00000698867.1:n.5216A>G
ENST00000698868.1:c.1106A>G	ENSP00000513994.1:p.Gln369Arg
ENST00000698869.1:c.1241A>G	ENSP00000513995.1:p.Gln414Arg
ENST00000698870.1:c.1241A>G	ENSP00000513996.1:p.Gln414Arg
ENST00000698871.1:n.1764A>G
ENST00000698872.1:c.*30A>G	ENSP00000513997.1:n.*30A>G
ENST00000698873.1:c.*436A>G	ENSP00000513998.1:n.*436A>G
ENST00000698874.1:c.701A>G	ENSP00000513999.1:p.Gln234Arg
ENST00000698875.1:n.1101A>G
ENST00000698876.1:n.1180A>G
ENST00000698877.1:n.809A>G
ENST00000698878.1:c.1241A>G	ENSP00000514000.1:p.Gln414Arg
ENST00000698880.1:c.1081A>G
ENST00000345728.10:c.1241A>G MANE Select	ENSP00000339950.5:p.Gln414Arg
ENST00000279227.9:c.1253A>G	ENSP00000279227.5:p.Gln418Arg
ENST00000345728.9:c.1241A>G	ENSP00000339950.5:p.Gln414Arg
ENST00000540957.1:n.394A>G
ENST00000541326.5:n.548A>G
NM_031471.5:c.1241A>G	NP_113659.3:p.Gln414Arg
NM_178443.2:c.1253A>G , LRG_180t1:c.1253A>G	NP_848537.1:p.Gln418Arg
XM_011545294.1:c.1253A>G	XP_011543596.1:p.Gln418Arg
XM_011545295.1:c.713A>G	XP_011543597.1:p.Gln238Arg
XM_011545296.1:c.713A>G	XP_011543598.1:p.Gln238Arg
XM_011545294.3:c.1253A>G	XP_011543596.1:p.Gln418Arg
XM_011545295.2:c.713A>G	XP_011543597.1:p.Gln238Arg
XM_017018398.2:c.1241A>G	XP_016873887.1:p.Gln414Arg
XM_017018399.1:c.701A>G	XP_016873888.1:p.Gln234Arg
NM_031471.6:c.1241A>G MANE Select	NP_113659.3:p.Gln414Arg
NM_001382361.1:c.1241A>G	NP_001369290.1:p.Gln414Arg
NM_001382362.1:c.1253A>G	NP_001369291.1:p.Gln418Arg
NM_001382363.1:c.701A>G	NP_001369292.1:p.Gln234Arg
NM_001382364.1:c.713A>G	NP_001369293.1:p.Gln238Arg
NM_001382448.1:c.1241A>G	NP_001369377.1:p.Gln414Arg
NM_178443.3:c.1253A>G	NP_848537.1:p.Gln418Arg