Canonical Allele Identifier: CA381090024

Gene: FERMT3

Linked Data

• dbSNP Id: rs1946754442
• MyVariant Identifiers: chr11:g.63990633A>C (hg19) ; chr11:g.64223161A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223161A>C , CM000673.2:g.64223161A>C	GRCh38
NC_000011.9:g.63990633A>C , CM000673.1:g.63990633A>C	GRCh37
NC_000011.8:g.63747209A>C	NCBI36
NG_016360.1:g.21482A>C , LRG_180:g.21482A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1796A>C	ENSP00000279227.5:p.Gln599Pro
ENST00000540554.2:n.3308A>C
ENST00000541252.2:c.1244A>C	ENSP00000438885.2:p.Gln415Pro
ENST00000544997.6:c.1784A>C	ENSP00000445778.2:p.Gln595Pro
ENST00000545896.2:c.348A>C	ENSP00000440209.2:p.Pro116=
ENST00000546255.2:n.2088A>C
ENST00000698845.1:c.*979A>C	ENSP00000513981.1:n.*979A>C
ENST00000698846.1:n.2030A>C
ENST00000698847.1:c.*1189A>C	ENSP00000513982.1:n.*1189A>C
ENST00000698850.1:n.3805A>C
ENST00000698852.1:c.1784A>C	ENSP00000513984.1:p.Gln595Pro
ENST00000698853.1:c.*1013A>C	ENSP00000513985.1:n.*1013A>C
ENST00000698854.1:c.*1114A>C	ENSP00000513986.1:n.*1114A>C
ENST00000698855.1:n.3436A>C
ENST00000698856.1:n.3130A>C
ENST00000698859.1:n.2294A>C
ENST00000698860.1:c.1796A>C	ENSP00000513988.1:p.Gln599Pro
ENST00000698861.1:c.1784A>C	ENSP00000513989.1:p.Gln595Pro
ENST00000698862.1:c.*1080A>C	ENSP00000513990.1:n.*1080A>C
ENST00000698863.1:c.1784A>C	ENSP00000513991.1:p.Gln595Pro
ENST00000698864.1:n.2345A>C
ENST00000698865.1:c.1805A>C	ENSP00000513992.1:p.Gln602Pro
ENST00000698866.1:c.*1572A>C	ENSP00000513993.1:n.*1572A>C
ENST00000698867.1:n.5759A>C
ENST00000698868.1:c.1649A>C	ENSP00000513994.1:p.Gln550Pro
ENST00000698869.1:c.1550A>C	ENSP00000513995.1:p.Gln517Pro
ENST00000698870.1:c.1784A>C	ENSP00000513996.1:p.Gln595Pro
ENST00000698871.1:n.2307A>C
ENST00000698872.1:c.*573A>C	ENSP00000513997.1:n.*573A>C
ENST00000698873.1:c.*979A>C	ENSP00000513998.1:n.*979A>C
ENST00000698874.1:c.1244A>C	ENSP00000513999.1:p.Gln415Pro
ENST00000698875.1:n.1644A>C
ENST00000698876.1:n.1832A>C
ENST00000698877.1:n.1352A>C
ENST00000698878.1:c.1778A>C	ENSP00000514000.1:p.Gln593Pro
ENST00000698880.1:c.1652A>C
ENST00000345728.10:c.1784A>C MANE Select	ENSP00000339950.5:p.Gln595Pro
ENST00000279227.9:c.1796A>C	ENSP00000279227.5:p.Gln599Pro
ENST00000345728.9:c.1784A>C	ENSP00000339950.5:p.Gln595Pro
ENST00000545896.1:c.347A>C	ENSP00000440209.1:p.Gln116Pro
NM_031471.5:c.1784A>C	NP_113659.3:p.Gln595Pro
NM_178443.2:c.1796A>C , LRG_180t1:c.1796A>C	NP_848537.1:p.Gln599Pro
XM_011545294.1:c.1796A>C	XP_011543596.1:p.Gln599Pro
XM_011545295.1:c.1256A>C	XP_011543597.1:p.Gln419Pro
XM_011545296.1:c.1256A>C	XP_011543598.1:p.Gln419Pro
XM_011545294.3:c.1796A>C	XP_011543596.1:p.Gln599Pro
XM_011545295.2:c.1256A>C	XP_011543597.1:p.Gln419Pro
XM_017018398.2:c.1784A>C	XP_016873887.1:p.Gln595Pro
XM_017018399.1:c.1244A>C	XP_016873888.1:p.Gln415Pro
NM_031471.6:c.1784A>C MANE Select	NP_113659.3:p.Gln595Pro
NM_001382361.1:c.1784A>C	NP_001369290.1:p.Gln595Pro
NM_001382362.1:c.1796A>C	NP_001369291.1:p.Gln599Pro
NM_001382363.1:c.1244A>C	NP_001369292.1:p.Gln415Pro
NM_001382364.1:c.1256A>C	NP_001369293.1:p.Gln419Pro
NM_001382448.1:c.1784A>C	NP_001369377.1:p.Gln595Pro
NM_178443.3:c.1796A>C	NP_848537.1:p.Gln599Pro