Canonical Allele Identifier: CA381087982

Gene: FERMT3

Linked Data

• dbSNP Id: rs1241999501
• gnomAD v2: 11-63988057-C-T
• MyVariant Identifiers: chr11:g.63988057C>T (hg19) ; chr11:g.64220585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220585C>T , CM000673.2:g.64220585C>T	GRCh38
NC_000011.9:g.63988057C>T , CM000673.1:g.63988057C>T	GRCh37
NC_000011.8:g.63744633C>T	NCBI36
NG_016360.1:g.18906C>T , LRG_180:g.18906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1473C>T	ENSP00000279227.5:p.Pro491=
ENST00000540554.2:n.2639C>T
ENST00000541252.2:c.921C>T	ENSP00000438885.2:p.Pro307=
ENST00000541326.6:n.882C>T
ENST00000544997.6:c.1461C>T	ENSP00000445778.2:p.Pro487=
ENST00000545896.2:c.150C>T	ENSP00000440209.2:p.Pro50=
ENST00000546255.2:n.1765C>T
ENST00000698845.1:c.*656C>T	ENSP00000513981.1:n.*656C>T
ENST00000698846.1:n.1707C>T
ENST00000698847.1:c.*866C>T	ENSP00000513982.1:n.*866C>T
ENST00000698849.1:n.581C>T
ENST00000698850.1:n.1229C>T
ENST00000698852.1:c.1461C>T	ENSP00000513984.1:p.Pro487=
ENST00000698853.1:c.*690C>T	ENSP00000513985.1:n.*690C>T
ENST00000698854.1:c.*791C>T	ENSP00000513986.1:n.*791C>T
ENST00000698855.1:n.3113C>T
ENST00000698856.1:n.2807C>T
ENST00000698859.1:n.1625C>T
ENST00000698860.1:c.1473C>T	ENSP00000513988.1:p.Pro491=
ENST00000698861.1:c.1461C>T	ENSP00000513989.1:p.Pro487=
ENST00000698862.1:c.*757C>T	ENSP00000513990.1:n.*757C>T
ENST00000698863.1:c.1461C>T	ENSP00000513991.1:p.Pro487=
ENST00000698864.1:n.1676C>T
ENST00000698865.1:c.1482C>T	ENSP00000513992.1:p.Pro494=
ENST00000698866.1:c.*975C>T	ENSP00000513993.1:n.*975C>T
ENST00000698867.1:n.5436C>T
ENST00000698868.1:c.1326C>T	ENSP00000513994.1:p.Pro442=
ENST00000698869.1:c.1311+259C>T	ENSP00000513995.1:n.1311+259C>T
ENST00000698870.1:c.1461C>T	ENSP00000513996.1:p.Pro487=
ENST00000698871.1:n.1984C>T
ENST00000698872.1:c.*250C>T	ENSP00000513997.1:n.*250C>T
ENST00000698873.1:c.*656C>T	ENSP00000513998.1:n.*656C>T
ENST00000698874.1:c.921C>T	ENSP00000513999.1:p.Pro307=
ENST00000698875.1:n.1321C>T
ENST00000698876.1:n.1509C>T
ENST00000698877.1:n.1029C>T
ENST00000698878.1:c.1455C>T	ENSP00000514000.1:p.Pro485=
ENST00000698880.1:c.1329C>T
ENST00000345728.10:c.1461C>T MANE Select	ENSP00000339950.5:p.Pro487=
ENST00000279227.9:c.1473C>T	ENSP00000279227.5:p.Pro491=
ENST00000345728.9:c.1461C>T	ENSP00000339950.5:p.Pro487=
ENST00000541326.5:n.877C>T
ENST00000545896.1:c.149C>T	ENSP00000440209.1:p.Pro50Leu
NM_031471.5:c.1461C>T	NP_113659.3:p.Pro487=
NM_178443.2:c.1473C>T , LRG_180t1:c.1473C>T	NP_848537.1:p.Pro491=
XM_011545294.1:c.1473C>T	XP_011543596.1:p.Pro491=
XM_011545295.1:c.933C>T	XP_011543597.1:p.Pro311=
XM_011545296.1:c.933C>T	XP_011543598.1:p.Pro311=
XM_011545294.3:c.1473C>T	XP_011543596.1:p.Pro491=
XM_011545295.2:c.933C>T	XP_011543597.1:p.Pro311=
XM_017018398.2:c.1461C>T	XP_016873887.1:p.Pro487=
XM_017018399.1:c.921C>T	XP_016873888.1:p.Pro307=
NM_031471.6:c.1461C>T MANE Select	NP_113659.3:p.Pro487=
NM_001382361.1:c.1461C>T	NP_001369290.1:p.Pro487=
NM_001382362.1:c.1473C>T	NP_001369291.1:p.Pro491=
NM_001382363.1:c.921C>T	NP_001369292.1:p.Pro307=
NM_001382364.1:c.933C>T	NP_001369293.1:p.Pro311=
NM_001382448.1:c.1461C>T	NP_001369377.1:p.Pro487=
NM_178443.3:c.1473C>T	NP_848537.1:p.Pro491=