Canonical Allele Identifier: CA381087823

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220552-G-C
• MyVariant Identifiers: chr11:g.63988024G>C (hg19) ; chr11:g.64220552G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220552G>C , CM000673.2:g.64220552G>C	GRCh38
NC_000011.9:g.63988024G>C , CM000673.1:g.63988024G>C	GRCh37
NC_000011.8:g.63744600G>C	NCBI36
NG_016360.1:g.18873G>C , LRG_180:g.18873G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000279227.10:c.1440G>C	ENSP00000279227.5:p.Gln480His
ENST00000540554.2:n.2606G>C
ENST00000541252.2:c.888G>C	ENSP00000438885.2:p.Gln296His
ENST00000541326.6:n.849G>C
ENST00000544997.6:c.1428G>C	ENSP00000445778.2:p.Gln476His
ENST00000545896.2:c.117G>C	ENSP00000440209.2:p.Gln39His
ENST00000546255.2:n.1732G>C
ENST00000698845.1:c.*623G>C	ENSP00000513981.1:n.*623G>C
ENST00000698846.1:n.1674G>C
ENST00000698847.1:c.*833G>C	ENSP00000513982.1:n.*833G>C
ENST00000698849.1:n.548G>C
ENST00000698850.1:n.1196G>C
ENST00000698852.1:c.1428G>C	ENSP00000513984.1:p.Gln476His
ENST00000698853.1:c.*657G>C	ENSP00000513985.1:n.*657G>C
ENST00000698854.1:c.*758G>C	ENSP00000513986.1:n.*758G>C
ENST00000698855.1:n.3080G>C
ENST00000698856.1:n.2774G>C
ENST00000698859.1:n.1592G>C
ENST00000698860.1:c.1440G>C	ENSP00000513988.1:p.Gln480His
ENST00000698861.1:c.1428G>C	ENSP00000513989.1:p.Gln476His
ENST00000698862.1:c.*724G>C	ENSP00000513990.1:n.*724G>C
ENST00000698863.1:c.1428G>C	ENSP00000513991.1:p.Gln476His
ENST00000698864.1:n.1643G>C
ENST00000698865.1:c.1449G>C	ENSP00000513992.1:p.Gln483His
ENST00000698866.1:c.*942G>C	ENSP00000513993.1:n.*942G>C
ENST00000698867.1:n.5403G>C
ENST00000698868.1:c.1293G>C	ENSP00000513994.1:p.Gln431His
ENST00000698869.1:c.1311+226G>C	ENSP00000513995.1:n.1311+226G>C
ENST00000698870.1:c.1428G>C	ENSP00000513996.1:p.Gln476His
ENST00000698871.1:n.1951G>C
ENST00000698872.1:c.*217G>C	ENSP00000513997.1:n.*217G>C
ENST00000698873.1:c.*623G>C	ENSP00000513998.1:n.*623G>C
ENST00000698874.1:c.888G>C	ENSP00000513999.1:p.Gln296His
ENST00000698875.1:n.1288G>C
ENST00000698876.1:n.1476G>C
ENST00000698877.1:n.996G>C
ENST00000698878.1:c.1422G>C	ENSP00000514000.1:p.Gln474His
ENST00000698880.1:c.1296G>C
ENST00000345728.10:c.1428G>C MANE Select	ENSP00000339950.5:p.Gln476His
ENST00000279227.9:c.1440G>C	ENSP00000279227.5:p.Gln480His
ENST00000345728.9:c.1428G>C	ENSP00000339950.5:p.Gln476His
ENST00000541326.5:n.844G>C
ENST00000545896.1:c.116G>C	ENSP00000440209.1:p.Ser39Thr
NM_031471.5:c.1428G>C	NP_113659.3:p.Gln476His
NM_178443.2:c.1440G>C , LRG_180t1:c.1440G>C	NP_848537.1:p.Gln480His
XM_011545294.1:c.1440G>C	XP_011543596.1:p.Gln480His
XM_011545295.1:c.900G>C	XP_011543597.1:p.Gln300His
XM_011545296.1:c.900G>C	XP_011543598.1:p.Gln300His
XM_011545294.3:c.1440G>C	XP_011543596.1:p.Gln480His
XM_011545295.2:c.900G>C	XP_011543597.1:p.Gln300His
XM_017018398.2:c.1428G>C	XP_016873887.1:p.Gln476His
XM_017018399.1:c.888G>C	XP_016873888.1:p.Gln296His
NM_031471.6:c.1428G>C MANE Select	NP_113659.3:p.Gln476His
NM_001382361.1:c.1428G>C	NP_001369290.1:p.Gln476His
NM_001382362.1:c.1440G>C	NP_001369291.1:p.Gln480His
NM_001382363.1:c.888G>C	NP_001369292.1:p.Gln296His
NM_001382364.1:c.900G>C	NP_001369293.1:p.Gln300His
NM_001382448.1:c.1428G>C	NP_001369377.1:p.Gln476His
NM_178443.3:c.1440G>C	NP_848537.1:p.Gln480His