Canonical Allele Identifier: CA381086995

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220244-A-C
• MyVariant Identifiers: chr11:g.63987716A>C (hg19) ; chr11:g.64220244A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220244A>C , CM000673.2:g.64220244A>C	GRCh38
NC_000011.9:g.63987716A>C , CM000673.1:g.63987716A>C	GRCh37
NC_000011.8:g.63744292A>C	NCBI36
NG_016360.1:g.18565A>C , LRG_180:g.18565A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1241A>C	ENSP00000279227.5:p.Asn414Thr
ENST00000540554.2:n.2298A>C
ENST00000541252.2:c.689A>C	ENSP00000438885.2:p.Asn230Thr
ENST00000541326.6:n.541A>C
ENST00000544997.6:c.1229A>C	ENSP00000445778.2:p.Asn410Thr
ENST00000546255.2:n.1424A>C
ENST00000698845.1:c.*424A>C	ENSP00000513981.1:n.*424A>C
ENST00000698846.1:n.1366A>C
ENST00000698847.1:c.*634A>C	ENSP00000513982.1:n.*634A>C
ENST00000698848.1:n.418A>C
ENST00000698849.1:n.349A>C
ENST00000698850.1:n.888A>C
ENST00000698852.1:c.1229A>C	ENSP00000513984.1:p.Asn410Thr
ENST00000698853.1:c.*458A>C	ENSP00000513985.1:n.*458A>C
ENST00000698854.1:c.*559A>C	ENSP00000513986.1:n.*559A>C
ENST00000698855.1:n.2881A>C
ENST00000698856.1:n.2466A>C
ENST00000698859.1:n.1393A>C
ENST00000698860.1:c.1241A>C	ENSP00000513988.1:p.Asn414Thr
ENST00000698861.1:c.1229A>C	ENSP00000513989.1:p.Asn410Thr
ENST00000698862.1:c.*525A>C	ENSP00000513990.1:n.*525A>C
ENST00000698863.1:c.1229A>C	ENSP00000513991.1:p.Asn410Thr
ENST00000698864.1:n.1335A>C
ENST00000698865.1:c.1250A>C	ENSP00000513992.1:p.Asn417Thr
ENST00000698866.1:c.*634A>C	ENSP00000513993.1:n.*634A>C
ENST00000698867.1:n.5204A>C
ENST00000698868.1:c.1094A>C	ENSP00000513994.1:p.Asn365Thr
ENST00000698869.1:c.1229A>C	ENSP00000513995.1:p.Asn410Thr
ENST00000698870.1:c.1229A>C	ENSP00000513996.1:p.Asn410Thr
ENST00000698871.1:n.1752A>C
ENST00000698872.1:c.*18A>C	ENSP00000513997.1:n.*18A>C
ENST00000698873.1:c.*424A>C	ENSP00000513998.1:n.*424A>C
ENST00000698874.1:c.689A>C	ENSP00000513999.1:p.Asn230Thr
ENST00000698875.1:n.1089A>C
ENST00000698876.1:n.1168A>C
ENST00000698877.1:n.797A>C
ENST00000698878.1:c.1229A>C	ENSP00000514000.1:p.Asn410Thr
ENST00000698880.1:c.1069A>C
ENST00000345728.10:c.1229A>C MANE Select	ENSP00000339950.5:p.Asn410Thr
ENST00000279227.9:c.1241A>C	ENSP00000279227.5:p.Asn414Thr
ENST00000345728.9:c.1229A>C	ENSP00000339950.5:p.Asn410Thr
ENST00000540957.1:n.382A>C
ENST00000541326.5:n.536A>C
NM_031471.5:c.1229A>C	NP_113659.3:p.Asn410Thr
NM_178443.2:c.1241A>C , LRG_180t1:c.1241A>C	NP_848537.1:p.Asn414Thr
XM_011545294.1:c.1241A>C	XP_011543596.1:p.Asn414Thr
XM_011545295.1:c.701A>C	XP_011543597.1:p.Asn234Thr
XM_011545296.1:c.701A>C	XP_011543598.1:p.Asn234Thr
XM_011545294.3:c.1241A>C	XP_011543596.1:p.Asn414Thr
XM_011545295.2:c.701A>C	XP_011543597.1:p.Asn234Thr
XM_017018398.2:c.1229A>C	XP_016873887.1:p.Asn410Thr
XM_017018399.1:c.689A>C	XP_016873888.1:p.Asn230Thr
NM_031471.6:c.1229A>C MANE Select	NP_113659.3:p.Asn410Thr
NM_001382361.1:c.1229A>C	NP_001369290.1:p.Asn410Thr
NM_001382362.1:c.1241A>C	NP_001369291.1:p.Asn414Thr
NM_001382363.1:c.689A>C	NP_001369292.1:p.Asn230Thr
NM_001382364.1:c.701A>C	NP_001369293.1:p.Asn234Thr
NM_001382448.1:c.1229A>C	NP_001369377.1:p.Asn410Thr
NM_178443.3:c.1241A>C	NP_848537.1:p.Asn414Thr