Canonical Allele Identifier: CA381088503

Gene: FERMT3

Linked Data

• dbSNP Id: rs1165979886
• gnomAD v2: 11-63988126-G-T
• gnomAD v4: 11-64220654-G-T
• MyVariant Identifiers: chr11:g.63988126G>T (hg19) ; chr11:g.64220654G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220654G>T , CM000673.2:g.64220654G>T	GRCh38
NC_000011.9:g.63988126G>T , CM000673.1:g.63988126G>T	GRCh37
NC_000011.8:g.63744702G>T	NCBI36
NG_016360.1:g.18975G>T , LRG_180:g.18975G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000279227.10:c.1542G>T	ENSP00000279227.5:p.Lys514Asn
ENST00000540554.2:n.2708G>T
ENST00000541252.2:c.990G>T	ENSP00000438885.2:p.Lys330Asn
ENST00000541326.6:n.951G>T
ENST00000544997.6:c.1530G>T	ENSP00000445778.2:p.Lys510Asn
ENST00000545896.2:c.219G>T	ENSP00000440209.2:p.Lys73Asn
ENST00000546255.2:n.1834G>T
ENST00000698845.1:c.*725G>T	ENSP00000513981.1:n.*725G>T
ENST00000698846.1:n.1776G>T
ENST00000698847.1:c.*935G>T	ENSP00000513982.1:n.*935G>T
ENST00000698849.1:n.650G>T
ENST00000698850.1:n.1298G>T
ENST00000698852.1:c.1530G>T	ENSP00000513984.1:p.Lys510Asn
ENST00000698853.1:c.*759G>T	ENSP00000513985.1:n.*759G>T
ENST00000698854.1:c.*860G>T	ENSP00000513986.1:n.*860G>T
ENST00000698855.1:n.3182G>T
ENST00000698856.1:n.2876G>T
ENST00000698859.1:n.1694G>T
ENST00000698860.1:c.1542G>T	ENSP00000513988.1:p.Lys514Asn
ENST00000698861.1:c.1530G>T	ENSP00000513989.1:p.Lys510Asn
ENST00000698862.1:c.*826G>T	ENSP00000513990.1:n.*826G>T
ENST00000698863.1:c.1530G>T	ENSP00000513991.1:p.Lys510Asn
ENST00000698864.1:n.1745G>T
ENST00000698865.1:c.1551G>T	ENSP00000513992.1:p.Lys517Asn
ENST00000698866.1:c.*1044G>T	ENSP00000513993.1:n.*1044G>T
ENST00000698867.1:n.5505G>T
ENST00000698868.1:c.1395G>T	ENSP00000513994.1:p.Lys465Asn
ENST00000698869.1:c.1311+328G>T	ENSP00000513995.1:n.1311+328G>T
ENST00000698870.1:c.1530G>T	ENSP00000513996.1:p.Lys510Asn
ENST00000698871.1:n.2053G>T
ENST00000698872.1:c.*319G>T	ENSP00000513997.1:n.*319G>T
ENST00000698873.1:c.*725G>T	ENSP00000513998.1:n.*725G>T
ENST00000698874.1:c.990G>T	ENSP00000513999.1:p.Lys330Asn
ENST00000698875.1:n.1390G>T
ENST00000698876.1:n.1578G>T
ENST00000698877.1:n.1098G>T
ENST00000698878.1:c.1524G>T	ENSP00000514000.1:p.Lys508Asn
ENST00000698880.1:c.1398G>T
ENST00000345728.10:c.1530G>T MANE Select	ENSP00000339950.5:p.Lys510Asn
ENST00000279227.9:c.1542G>T	ENSP00000279227.5:p.Lys514Asn
ENST00000345728.9:c.1530G>T	ENSP00000339950.5:p.Lys510Asn
ENST00000545896.1:c.218G>T	ENSP00000440209.1:p.Ser73Ile
NM_031471.5:c.1530G>T	NP_113659.3:p.Lys510Asn
NM_178443.2:c.1542G>T , LRG_180t1:c.1542G>T	NP_848537.1:p.Lys514Asn
XM_011545294.1:c.1542G>T	XP_011543596.1:p.Lys514Asn
XM_011545295.1:c.1002G>T	XP_011543597.1:p.Lys334Asn
XM_011545296.1:c.1002G>T	XP_011543598.1:p.Lys334Asn
XM_011545294.3:c.1542G>T	XP_011543596.1:p.Lys514Asn
XM_011545295.2:c.1002G>T	XP_011543597.1:p.Lys334Asn
XM_017018398.2:c.1530G>T	XP_016873887.1:p.Lys510Asn
XM_017018399.1:c.990G>T	XP_016873888.1:p.Lys330Asn
NM_031471.6:c.1530G>T MANE Select	NP_113659.3:p.Lys510Asn
NM_001382361.1:c.1530G>T	NP_001369290.1:p.Lys510Asn
NM_001382362.1:c.1542G>T	NP_001369291.1:p.Lys514Asn
NM_001382363.1:c.990G>T	NP_001369292.1:p.Lys330Asn
NM_001382364.1:c.1002G>T	NP_001369293.1:p.Lys334Asn
NM_001382448.1:c.1530G>T	NP_001369377.1:p.Lys510Asn
NM_178443.3:c.1542G>T	NP_848537.1:p.Lys514Asn