Canonical Allele Identifier: CA381089766

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63990585T>C (hg19) ; chr11:g.64223113T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223113T>C , CM000673.2:g.64223113T>C	GRCh38
NC_000011.9:g.63990585T>C , CM000673.1:g.63990585T>C	GRCh37
NC_000011.8:g.63747161T>C	NCBI36
NG_016360.1:g.21434T>C , LRG_180:g.21434T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1748T>C	ENSP00000279227.5:p.Leu583Ser
ENST00000540554.2:n.3260T>C
ENST00000541252.2:c.1196T>C	ENSP00000438885.2:p.Leu399Ser
ENST00000544997.6:c.1736T>C	ENSP00000445778.2:p.Leu579Ser
ENST00000545896.2:c.300T>C	ENSP00000440209.2:p.Leu100=
ENST00000546255.2:n.2040T>C
ENST00000698845.1:c.*931T>C	ENSP00000513981.1:n.*931T>C
ENST00000698846.1:n.1982T>C
ENST00000698847.1:c.*1141T>C	ENSP00000513982.1:n.*1141T>C
ENST00000698850.1:n.3757T>C
ENST00000698852.1:c.1736T>C	ENSP00000513984.1:p.Leu579Ser
ENST00000698853.1:c.*965T>C	ENSP00000513985.1:n.*965T>C
ENST00000698854.1:c.*1066T>C	ENSP00000513986.1:n.*1066T>C
ENST00000698855.1:n.3388T>C
ENST00000698856.1:n.3082T>C
ENST00000698859.1:n.2246T>C
ENST00000698860.1:c.1748T>C	ENSP00000513988.1:p.Leu583Ser
ENST00000698861.1:c.1736T>C	ENSP00000513989.1:p.Leu579Ser
ENST00000698862.1:c.*1032T>C	ENSP00000513990.1:n.*1032T>C
ENST00000698863.1:c.1736T>C	ENSP00000513991.1:p.Leu579Ser
ENST00000698864.1:n.2297T>C
ENST00000698865.1:c.1757T>C	ENSP00000513992.1:p.Leu586Ser
ENST00000698866.1:c.*1524T>C	ENSP00000513993.1:n.*1524T>C
ENST00000698867.1:n.5711T>C
ENST00000698868.1:c.1601T>C	ENSP00000513994.1:p.Leu534Ser
ENST00000698869.1:c.1502T>C	ENSP00000513995.1:p.Leu501Ser
ENST00000698870.1:c.1736T>C	ENSP00000513996.1:p.Leu579Ser
ENST00000698871.1:n.2259T>C
ENST00000698872.1:c.*525T>C	ENSP00000513997.1:n.*525T>C
ENST00000698873.1:c.*931T>C	ENSP00000513998.1:n.*931T>C
ENST00000698874.1:c.1196T>C	ENSP00000513999.1:p.Leu399Ser
ENST00000698875.1:n.1596T>C
ENST00000698876.1:n.1784T>C
ENST00000698877.1:n.1304T>C
ENST00000698878.1:c.1730T>C	ENSP00000514000.1:p.Leu577Ser
ENST00000698880.1:c.1604T>C
ENST00000345728.10:c.1736T>C MANE Select	ENSP00000339950.5:p.Leu579Ser
ENST00000279227.9:c.1748T>C	ENSP00000279227.5:p.Leu583Ser
ENST00000345728.9:c.1736T>C	ENSP00000339950.5:p.Leu579Ser
ENST00000540554.1:n.372T>C
ENST00000545896.1:c.299T>C	ENSP00000440209.1:p.Leu100Ser
NM_031471.5:c.1736T>C	NP_113659.3:p.Leu579Ser
NM_178443.2:c.1748T>C , LRG_180t1:c.1748T>C	NP_848537.1:p.Leu583Ser
XM_011545294.1:c.1748T>C	XP_011543596.1:p.Leu583Ser
XM_011545295.1:c.1208T>C	XP_011543597.1:p.Leu403Ser
XM_011545296.1:c.1208T>C	XP_011543598.1:p.Leu403Ser
XM_011545294.3:c.1748T>C	XP_011543596.1:p.Leu583Ser
XM_011545295.2:c.1208T>C	XP_011543597.1:p.Leu403Ser
XM_017018398.2:c.1736T>C	XP_016873887.1:p.Leu579Ser
XM_017018399.1:c.1196T>C	XP_016873888.1:p.Leu399Ser
NM_031471.6:c.1736T>C MANE Select	NP_113659.3:p.Leu579Ser
NM_001382361.1:c.1736T>C	NP_001369290.1:p.Leu579Ser
NM_001382362.1:c.1748T>C	NP_001369291.1:p.Leu583Ser
NM_001382363.1:c.1196T>C	NP_001369292.1:p.Leu399Ser
NM_001382364.1:c.1208T>C	NP_001369293.1:p.Leu403Ser
NM_001382448.1:c.1736T>C	NP_001369377.1:p.Leu579Ser
NM_178443.3:c.1748T>C	NP_848537.1:p.Leu583Ser