Canonical Allele Identifier: CA381083842

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63979173T>C (hg19) ; chr11:g.64211701T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64211701T>C , CM000673.2:g.64211701T>C	GRCh38
NC_000011.9:g.63979173T>C , CM000673.1:g.63979173T>C	GRCh37
NC_000011.8:g.63735749T>C	NCBI36
NG_016360.1:g.10022T>C , LRG_180:g.10022T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.740T>C	ENSP00000279227.5:p.Leu247Pro
ENST00000541252.2:c.200T>C	ENSP00000438885.2:p.Leu67Pro
ENST00000541326.6:n.57T>C
ENST00000544997.6:c.740T>C	ENSP00000445778.2:p.Leu247Pro
ENST00000546255.2:n.834T>C
ENST00000698845.1:c.740T>C	ENSP00000513981.1:p.Leu247Pro
ENST00000698846.1:n.877T>C
ENST00000698847.1:c.*145T>C	ENSP00000513982.1:n.*145T>C
ENST00000698850.1:n.52T>C
ENST00000698852.1:c.740T>C	ENSP00000513984.1:p.Leu247Pro
ENST00000698853.1:c.740T>C	ENSP00000513985.1:p.Leu247Pro
ENST00000698854.1:c.740T>C	ENSP00000513986.1:p.Leu247Pro
ENST00000698855.1:n.2392T>C
ENST00000698856.1:n.1660T>C
ENST00000698859.1:n.904T>C
ENST00000698860.1:c.740T>C	ENSP00000513988.1:p.Leu247Pro
ENST00000698861.1:c.740T>C	ENSP00000513989.1:p.Leu247Pro
ENST00000698862.1:c.740T>C	ENSP00000513990.1:p.Leu247Pro
ENST00000698863.1:c.740T>C	ENSP00000513991.1:p.Leu247Pro
ENST00000698864.1:n.846T>C
ENST00000698865.1:c.740T>C	ENSP00000513992.1:p.Leu247Pro
ENST00000698866.1:c.*145T>C	ENSP00000513993.1:n.*145T>C
ENST00000698867.1:n.4449T>C
ENST00000698868.1:c.740T>C	ENSP00000513994.1:p.Leu247Pro
ENST00000698869.1:c.740T>C	ENSP00000513995.1:p.Leu247Pro
ENST00000698870.1:c.740T>C	ENSP00000513996.1:p.Leu247Pro
ENST00000698871.1:n.997T>C
ENST00000698872.1:c.200T>C	ENSP00000513997.1:p.Leu67Pro
ENST00000698873.1:c.200T>C	ENSP00000513998.1:p.Leu67Pro
ENST00000698874.1:c.200T>C	ENSP00000513999.1:p.Leu67Pro
ENST00000698875.1:n.600T>C
ENST00000698878.1:c.740T>C	ENSP00000514000.1:p.Leu247Pro
ENST00000698879.1:c.649T>C
ENST00000698880.1:c.580T>C
ENST00000345728.10:c.740T>C MANE Select	ENSP00000339950.5:p.Leu247Pro
ENST00000279227.9:c.740T>C	ENSP00000279227.5:p.Leu247Pro
ENST00000345728.9:c.740T>C	ENSP00000339950.5:p.Leu247Pro
ENST00000541252.1:c.200T>C	ENSP00000438885.1:p.Leu67Pro
ENST00000541326.5:n.52T>C
ENST00000544997.5:c.740T>C	ENSP00000445778.1:p.Leu247Pro
NM_031471.5:c.740T>C	NP_113659.3:p.Leu247Pro
NM_178443.2:c.740T>C , LRG_180t1:c.740T>C	NP_848537.1:p.Leu247Pro
XM_011545294.1:c.740T>C	XP_011543596.1:p.Leu247Pro
XM_011545295.1:c.200T>C	XP_011543597.1:p.Leu67Pro
XM_011545296.1:c.200T>C	XP_011543598.1:p.Leu67Pro
XM_011545294.3:c.740T>C	XP_011543596.1:p.Leu247Pro
XM_011545295.2:c.200T>C	XP_011543597.1:p.Leu67Pro
XM_017018398.2:c.740T>C	XP_016873887.1:p.Leu247Pro
XM_017018399.1:c.200T>C	XP_016873888.1:p.Leu67Pro
NM_031471.6:c.740T>C MANE Select	NP_113659.3:p.Leu247Pro
NM_001382361.1:c.740T>C	NP_001369290.1:p.Leu247Pro
NM_001382362.1:c.740T>C	NP_001369291.1:p.Leu247Pro
NM_001382363.1:c.200T>C	NP_001369292.1:p.Leu67Pro
NM_001382364.1:c.200T>C	NP_001369293.1:p.Leu67Pro
NM_001382448.1:c.740T>C	NP_001369377.1:p.Leu247Pro
NM_178443.3:c.740T>C	NP_848537.1:p.Leu247Pro