Canonical Allele Identifier: CA381087242

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63987785T>C (hg19) ; chr11:g.64220313T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220313T>C , CM000673.2:g.64220313T>C	GRCh38
NC_000011.9:g.63987785T>C , CM000673.1:g.63987785T>C	GRCh37
NC_000011.8:g.63744361T>C	NCBI36
NG_016360.1:g.18634T>C , LRG_180:g.18634T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1310T>C	ENSP00000279227.5:p.Leu437Pro
ENST00000540554.2:n.2367T>C
ENST00000541252.2:c.758T>C	ENSP00000438885.2:p.Leu253Pro
ENST00000541326.6:n.610T>C
ENST00000544997.6:c.1298T>C	ENSP00000445778.2:p.Leu433Pro
ENST00000546255.2:n.1493T>C
ENST00000698845.1:c.*493T>C	ENSP00000513981.1:n.*493T>C
ENST00000698846.1:n.1435T>C
ENST00000698847.1:c.*703T>C	ENSP00000513982.1:n.*703T>C
ENST00000698848.1:n.487T>C
ENST00000698849.1:n.418T>C
ENST00000698850.1:n.957T>C
ENST00000698852.1:c.1298T>C	ENSP00000513984.1:p.Leu433Pro
ENST00000698853.1:c.*527T>C	ENSP00000513985.1:n.*527T>C
ENST00000698854.1:c.*628T>C	ENSP00000513986.1:n.*628T>C
ENST00000698855.1:n.2950T>C
ENST00000698856.1:n.2535T>C
ENST00000698859.1:n.1462T>C
ENST00000698860.1:c.1310T>C	ENSP00000513988.1:p.Leu437Pro
ENST00000698861.1:c.1298T>C	ENSP00000513989.1:p.Leu433Pro
ENST00000698862.1:c.*594T>C	ENSP00000513990.1:n.*594T>C
ENST00000698863.1:c.1298T>C	ENSP00000513991.1:p.Leu433Pro
ENST00000698864.1:n.1404T>C
ENST00000698865.1:c.1319T>C	ENSP00000513992.1:p.Leu440Pro
ENST00000698866.1:c.*703T>C	ENSP00000513993.1:n.*703T>C
ENST00000698867.1:n.5273T>C
ENST00000698868.1:c.1163T>C	ENSP00000513994.1:p.Leu388Pro
ENST00000698869.1:c.1298T>C	ENSP00000513995.1:p.Leu433Pro
ENST00000698870.1:c.1298T>C	ENSP00000513996.1:p.Leu433Pro
ENST00000698871.1:n.1821T>C
ENST00000698872.1:c.*87T>C	ENSP00000513997.1:n.*87T>C
ENST00000698873.1:c.*493T>C	ENSP00000513998.1:n.*493T>C
ENST00000698874.1:c.758T>C	ENSP00000513999.1:p.Leu253Pro
ENST00000698875.1:n.1158T>C
ENST00000698876.1:n.1237T>C
ENST00000698877.1:n.866T>C
ENST00000698878.1:c.1298T>C	ENSP00000514000.1:p.Leu433Pro
ENST00000698880.1:c.1138T>C
ENST00000345728.10:c.1298T>C MANE Select	ENSP00000339950.5:p.Leu433Pro
ENST00000279227.9:c.1310T>C	ENSP00000279227.5:p.Leu437Pro
ENST00000345728.9:c.1298T>C	ENSP00000339950.5:p.Leu433Pro
ENST00000540957.1:n.451T>C
ENST00000541326.5:n.605T>C
NM_031471.5:c.1298T>C	NP_113659.3:p.Leu433Pro
NM_178443.2:c.1310T>C , LRG_180t1:c.1310T>C	NP_848537.1:p.Leu437Pro
XM_011545294.1:c.1310T>C	XP_011543596.1:p.Leu437Pro
XM_011545295.1:c.770T>C	XP_011543597.1:p.Leu257Pro
XM_011545296.1:c.770T>C	XP_011543598.1:p.Leu257Pro
XM_011545294.3:c.1310T>C	XP_011543596.1:p.Leu437Pro
XM_011545295.2:c.770T>C	XP_011543597.1:p.Leu257Pro
XM_017018398.2:c.1298T>C	XP_016873887.1:p.Leu433Pro
XM_017018399.1:c.758T>C	XP_016873888.1:p.Leu253Pro
NM_031471.6:c.1298T>C MANE Select	NP_113659.3:p.Leu433Pro
NM_001382361.1:c.1298T>C	NP_001369290.1:p.Leu433Pro
NM_001382362.1:c.1310T>C	NP_001369291.1:p.Leu437Pro
NM_001382363.1:c.758T>C	NP_001369292.1:p.Leu253Pro
NM_001382364.1:c.770T>C	NP_001369293.1:p.Leu257Pro
NM_001382448.1:c.1298T>C	NP_001369377.1:p.Leu433Pro
NM_178443.3:c.1310T>C	NP_848537.1:p.Leu437Pro