Canonical Allele Identifier: CA381088529

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63988136A>C (hg19) ; chr11:g.64220664A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220664A>C , CM000673.2:g.64220664A>C	GRCh38
NC_000011.9:g.63988136A>C , CM000673.1:g.63988136A>C	GRCh37
NC_000011.8:g.63744712A>C	NCBI36
NG_016360.1:g.18985A>C , LRG_180:g.18985A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1552A>C	ENSP00000279227.5:p.Lys518Gln
ENST00000540554.2:n.2718A>C
ENST00000541252.2:c.1000A>C	ENSP00000438885.2:p.Lys334Gln
ENST00000541326.6:n.961A>C
ENST00000544997.6:c.1540A>C	ENSP00000445778.2:p.Lys514Gln
ENST00000545896.2:c.229A>C	ENSP00000440209.2:p.Lys77Gln
ENST00000546255.2:n.1844A>C
ENST00000698845.1:c.*735A>C	ENSP00000513981.1:n.*735A>C
ENST00000698846.1:n.1786A>C
ENST00000698847.1:c.*945A>C	ENSP00000513982.1:n.*945A>C
ENST00000698849.1:n.660A>C
ENST00000698850.1:n.1308A>C
ENST00000698852.1:c.1540A>C	ENSP00000513984.1:p.Lys514Gln
ENST00000698853.1:c.*769A>C	ENSP00000513985.1:n.*769A>C
ENST00000698854.1:c.*870A>C	ENSP00000513986.1:n.*870A>C
ENST00000698855.1:n.3192A>C
ENST00000698856.1:n.2886A>C
ENST00000698859.1:n.1704A>C
ENST00000698860.1:c.1552A>C	ENSP00000513988.1:p.Lys518Gln
ENST00000698861.1:c.1540A>C	ENSP00000513989.1:p.Lys514Gln
ENST00000698862.1:c.*836A>C	ENSP00000513990.1:n.*836A>C
ENST00000698863.1:c.1540A>C	ENSP00000513991.1:p.Lys514Gln
ENST00000698864.1:n.1755A>C
ENST00000698865.1:c.1561A>C	ENSP00000513992.1:p.Lys521Gln
ENST00000698866.1:c.*1054A>C	ENSP00000513993.1:n.*1054A>C
ENST00000698867.1:n.5515A>C
ENST00000698868.1:c.1405A>C	ENSP00000513994.1:p.Lys469Gln
ENST00000698869.1:c.1311+338A>C	ENSP00000513995.1:n.1311+338A>C
ENST00000698870.1:c.1540A>C	ENSP00000513996.1:p.Lys514Gln
ENST00000698871.1:n.2063A>C
ENST00000698872.1:c.*329A>C	ENSP00000513997.1:n.*329A>C
ENST00000698873.1:c.*735A>C	ENSP00000513998.1:n.*735A>C
ENST00000698874.1:c.1000A>C	ENSP00000513999.1:p.Lys334Gln
ENST00000698875.1:n.1400A>C
ENST00000698876.1:n.1588A>C
ENST00000698877.1:n.1108A>C
ENST00000698878.1:c.1534A>C	ENSP00000514000.1:p.Lys512Gln
ENST00000698880.1:c.1408A>C
ENST00000345728.10:c.1540A>C MANE Select	ENSP00000339950.5:p.Lys514Gln
ENST00000279227.9:c.1552A>C	ENSP00000279227.5:p.Lys518Gln
ENST00000345728.9:c.1540A>C	ENSP00000339950.5:p.Lys514Gln
ENST00000545896.1:c.228A>C	ENSP00000440209.1:p.Pro76=
NM_031471.5:c.1540A>C	NP_113659.3:p.Lys514Gln
NM_178443.2:c.1552A>C , LRG_180t1:c.1552A>C	NP_848537.1:p.Lys518Gln
XM_011545294.1:c.1552A>C	XP_011543596.1:p.Lys518Gln
XM_011545295.1:c.1012A>C	XP_011543597.1:p.Lys338Gln
XM_011545296.1:c.1012A>C	XP_011543598.1:p.Lys338Gln
XM_011545294.3:c.1552A>C	XP_011543596.1:p.Lys518Gln
XM_011545295.2:c.1012A>C	XP_011543597.1:p.Lys338Gln
XM_017018398.2:c.1540A>C	XP_016873887.1:p.Lys514Gln
XM_017018399.1:c.1000A>C	XP_016873888.1:p.Lys334Gln
NM_031471.6:c.1540A>C MANE Select	NP_113659.3:p.Lys514Gln
NM_001382361.1:c.1540A>C	NP_001369290.1:p.Lys514Gln
NM_001382362.1:c.1552A>C	NP_001369291.1:p.Lys518Gln
NM_001382363.1:c.1000A>C	NP_001369292.1:p.Lys334Gln
NM_001382364.1:c.1012A>C	NP_001369293.1:p.Lys338Gln
NM_001382448.1:c.1540A>C	NP_001369377.1:p.Lys514Gln
NM_178443.3:c.1552A>C	NP_848537.1:p.Lys518Gln