Canonical Allele Identifier: CA381089771

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64223114-G-C
• MyVariant Identifiers: chr11:g.63990586G>C (hg19) ; chr11:g.64223114G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223114G>C , CM000673.2:g.64223114G>C	GRCh38
NC_000011.9:g.63990586G>C , CM000673.1:g.63990586G>C	GRCh37
NC_000011.8:g.63747162G>C	NCBI36
NG_016360.1:g.21435G>C , LRG_180:g.21435G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1749G>C	ENSP00000279227.5:p.Leu583Phe
ENST00000540554.2:n.3261G>C
ENST00000541252.2:c.1197G>C	ENSP00000438885.2:p.Leu399Phe
ENST00000544997.6:c.1737G>C	ENSP00000445778.2:p.Leu579Phe
ENST00000545896.2:c.301G>C	ENSP00000440209.2:p.Gly101Arg
ENST00000546255.2:n.2041G>C
ENST00000698845.1:c.*932G>C	ENSP00000513981.1:n.*932G>C
ENST00000698846.1:n.1983G>C
ENST00000698847.1:c.*1142G>C	ENSP00000513982.1:n.*1142G>C
ENST00000698850.1:n.3758G>C
ENST00000698852.1:c.1737G>C	ENSP00000513984.1:p.Leu579Phe
ENST00000698853.1:c.*966G>C	ENSP00000513985.1:n.*966G>C
ENST00000698854.1:c.*1067G>C	ENSP00000513986.1:n.*1067G>C
ENST00000698855.1:n.3389G>C
ENST00000698856.1:n.3083G>C
ENST00000698859.1:n.2247G>C
ENST00000698860.1:c.1749G>C	ENSP00000513988.1:p.Leu583Phe
ENST00000698861.1:c.1737G>C	ENSP00000513989.1:p.Leu579Phe
ENST00000698862.1:c.*1033G>C	ENSP00000513990.1:n.*1033G>C
ENST00000698863.1:c.1737G>C	ENSP00000513991.1:p.Leu579Phe
ENST00000698864.1:n.2298G>C
ENST00000698865.1:c.1758G>C	ENSP00000513992.1:p.Leu586Phe
ENST00000698866.1:c.*1525G>C	ENSP00000513993.1:n.*1525G>C
ENST00000698867.1:n.5712G>C
ENST00000698868.1:c.1602G>C	ENSP00000513994.1:p.Leu534Phe
ENST00000698869.1:c.1503G>C	ENSP00000513995.1:p.Leu501Phe
ENST00000698870.1:c.1737G>C	ENSP00000513996.1:p.Leu579Phe
ENST00000698871.1:n.2260G>C
ENST00000698872.1:c.*526G>C	ENSP00000513997.1:n.*526G>C
ENST00000698873.1:c.*932G>C	ENSP00000513998.1:n.*932G>C
ENST00000698874.1:c.1197G>C	ENSP00000513999.1:p.Leu399Phe
ENST00000698875.1:n.1597G>C
ENST00000698876.1:n.1785G>C
ENST00000698877.1:n.1305G>C
ENST00000698878.1:c.1731G>C	ENSP00000514000.1:p.Leu577Phe
ENST00000698880.1:c.1605G>C
ENST00000345728.10:c.1737G>C MANE Select	ENSP00000339950.5:p.Leu579Phe
ENST00000279227.9:c.1749G>C	ENSP00000279227.5:p.Leu583Phe
ENST00000345728.9:c.1737G>C	ENSP00000339950.5:p.Leu579Phe
ENST00000540554.1:n.373G>C
ENST00000545896.1:c.300G>C	ENSP00000440209.1:p.Leu100Phe
NM_031471.5:c.1737G>C	NP_113659.3:p.Leu579Phe
NM_178443.2:c.1749G>C , LRG_180t1:c.1749G>C	NP_848537.1:p.Leu583Phe
XM_011545294.1:c.1749G>C	XP_011543596.1:p.Leu583Phe
XM_011545295.1:c.1209G>C	XP_011543597.1:p.Leu403Phe
XM_011545296.1:c.1209G>C	XP_011543598.1:p.Leu403Phe
XM_011545294.3:c.1749G>C	XP_011543596.1:p.Leu583Phe
XM_011545295.2:c.1209G>C	XP_011543597.1:p.Leu403Phe
XM_017018398.2:c.1737G>C	XP_016873887.1:p.Leu579Phe
XM_017018399.1:c.1197G>C	XP_016873888.1:p.Leu399Phe
NM_031471.6:c.1737G>C MANE Select	NP_113659.3:p.Leu579Phe
NM_001382361.1:c.1737G>C	NP_001369290.1:p.Leu579Phe
NM_001382362.1:c.1749G>C	NP_001369291.1:p.Leu583Phe
NM_001382363.1:c.1197G>C	NP_001369292.1:p.Leu399Phe
NM_001382364.1:c.1209G>C	NP_001369293.1:p.Leu403Phe
NM_001382448.1:c.1737G>C	NP_001369377.1:p.Leu579Phe
NM_178443.3:c.1749G>C	NP_848537.1:p.Leu583Phe