Canonical Allele Identifier: CA381090079

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63990641G>C (hg19) ; chr11:g.64223169G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223169G>C , CM000673.2:g.64223169G>C	GRCh38
NC_000011.9:g.63990641G>C , CM000673.1:g.63990641G>C	GRCh37
NC_000011.8:g.63747217G>C	NCBI36
NG_016360.1:g.21490G>C , LRG_180:g.21490G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1804G>C	ENSP00000279227.5:p.Val602Leu
ENST00000540554.2:n.3316G>C
ENST00000541252.2:c.1252G>C	ENSP00000438885.2:p.Val418Leu
ENST00000544997.6:c.1792G>C	ENSP00000445778.2:p.Val598Leu
ENST00000545896.2:c.356G>C	ENSP00000440209.2:p.Cys119Ser
ENST00000546255.2:n.2096G>C
ENST00000698845.1:c.*987G>C	ENSP00000513981.1:n.*987G>C
ENST00000698846.1:n.2038G>C
ENST00000698847.1:c.*1197G>C	ENSP00000513982.1:n.*1197G>C
ENST00000698850.1:n.3813G>C
ENST00000698852.1:c.1792G>C	ENSP00000513984.1:p.Val598Leu
ENST00000698853.1:c.*1021G>C	ENSP00000513985.1:n.*1021G>C
ENST00000698854.1:c.*1122G>C	ENSP00000513986.1:n.*1122G>C
ENST00000698855.1:n.3444G>C
ENST00000698856.1:n.3138G>C
ENST00000698859.1:n.2302G>C
ENST00000698860.1:c.1804G>C	ENSP00000513988.1:p.Val602Leu
ENST00000698861.1:c.1792G>C	ENSP00000513989.1:p.Val598Leu
ENST00000698862.1:c.*1088G>C	ENSP00000513990.1:n.*1088G>C
ENST00000698863.1:c.1792G>C	ENSP00000513991.1:p.Val598Leu
ENST00000698864.1:n.2353G>C
ENST00000698865.1:c.1813G>C	ENSP00000513992.1:p.Val605Leu
ENST00000698866.1:c.*1580G>C	ENSP00000513993.1:n.*1580G>C
ENST00000698867.1:n.5767G>C
ENST00000698868.1:c.1657G>C	ENSP00000513994.1:p.Val553Leu
ENST00000698869.1:c.1558G>C	ENSP00000513995.1:p.Val520Leu
ENST00000698870.1:c.1792G>C	ENSP00000513996.1:p.Val598Leu
ENST00000698871.1:n.2315G>C
ENST00000698872.1:c.*581G>C	ENSP00000513997.1:n.*581G>C
ENST00000698873.1:c.*987G>C	ENSP00000513998.1:n.*987G>C
ENST00000698874.1:c.1252G>C	ENSP00000513999.1:p.Val418Leu
ENST00000698875.1:n.1652G>C
ENST00000698876.1:n.1840G>C
ENST00000698877.1:n.1360G>C
ENST00000698878.1:c.1786G>C	ENSP00000514000.1:p.Val596Leu
ENST00000698880.1:c.1660G>C
ENST00000345728.10:c.1792G>C MANE Select	ENSP00000339950.5:p.Val598Leu
ENST00000279227.9:c.1804G>C	ENSP00000279227.5:p.Val602Leu
ENST00000345728.9:c.1792G>C	ENSP00000339950.5:p.Val598Leu
ENST00000545896.1:c.355G>C	ENSP00000440209.1:p.Val119Leu
NM_031471.5:c.1792G>C	NP_113659.3:p.Val598Leu
NM_178443.2:c.1804G>C , LRG_180t1:c.1804G>C	NP_848537.1:p.Val602Leu
XM_011545294.1:c.1804G>C	XP_011543596.1:p.Val602Leu
XM_011545295.1:c.1264G>C	XP_011543597.1:p.Val422Leu
XM_011545296.1:c.1264G>C	XP_011543598.1:p.Val422Leu
XM_011545294.3:c.1804G>C	XP_011543596.1:p.Val602Leu
XM_011545295.2:c.1264G>C	XP_011543597.1:p.Val422Leu
XM_017018398.2:c.1792G>C	XP_016873887.1:p.Val598Leu
XM_017018399.1:c.1252G>C	XP_016873888.1:p.Val418Leu
NM_031471.6:c.1792G>C MANE Select	NP_113659.3:p.Val598Leu
NM_001382361.1:c.1792G>C	NP_001369290.1:p.Val598Leu
NM_001382362.1:c.1804G>C	NP_001369291.1:p.Val602Leu
NM_001382363.1:c.1252G>C	NP_001369292.1:p.Val418Leu
NM_001382364.1:c.1264G>C	NP_001369293.1:p.Val422Leu
NM_001382448.1:c.1792G>C	NP_001369377.1:p.Val598Leu
NM_178443.3:c.1804G>C	NP_848537.1:p.Val602Leu