Canonical Allele Identifier: CA381087039

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63987729G>C (hg19) ; chr11:g.64220257G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220257G>C , CM000673.2:g.64220257G>C	GRCh38
NC_000011.9:g.63987729G>C , CM000673.1:g.63987729G>C	GRCh37
NC_000011.8:g.63744305G>C	NCBI36
NG_016360.1:g.18578G>C , LRG_180:g.18578G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1254G>C	ENSP00000279227.5:p.Gln418His
ENST00000540554.2:n.2311G>C
ENST00000541252.2:c.702G>C	ENSP00000438885.2:p.Gln234His
ENST00000541326.6:n.554G>C
ENST00000544997.6:c.1242G>C	ENSP00000445778.2:p.Gln414His
ENST00000546255.2:n.1437G>C
ENST00000698845.1:c.*437G>C	ENSP00000513981.1:n.*437G>C
ENST00000698846.1:n.1379G>C
ENST00000698847.1:c.*647G>C	ENSP00000513982.1:n.*647G>C
ENST00000698848.1:n.431G>C
ENST00000698849.1:n.362G>C
ENST00000698850.1:n.901G>C
ENST00000698852.1:c.1242G>C	ENSP00000513984.1:p.Gln414His
ENST00000698853.1:c.*471G>C	ENSP00000513985.1:n.*471G>C
ENST00000698854.1:c.*572G>C	ENSP00000513986.1:n.*572G>C
ENST00000698855.1:n.2894G>C
ENST00000698856.1:n.2479G>C
ENST00000698859.1:n.1406G>C
ENST00000698860.1:c.1254G>C	ENSP00000513988.1:p.Gln418His
ENST00000698861.1:c.1242G>C	ENSP00000513989.1:p.Gln414His
ENST00000698862.1:c.*538G>C	ENSP00000513990.1:n.*538G>C
ENST00000698863.1:c.1242G>C	ENSP00000513991.1:p.Gln414His
ENST00000698864.1:n.1348G>C
ENST00000698865.1:c.1263G>C	ENSP00000513992.1:p.Gln421His
ENST00000698866.1:c.*647G>C	ENSP00000513993.1:n.*647G>C
ENST00000698867.1:n.5217G>C
ENST00000698868.1:c.1107G>C	ENSP00000513994.1:p.Gln369His
ENST00000698869.1:c.1242G>C	ENSP00000513995.1:p.Gln414His
ENST00000698870.1:c.1242G>C	ENSP00000513996.1:p.Gln414His
ENST00000698871.1:n.1765G>C
ENST00000698872.1:c.*31G>C	ENSP00000513997.1:n.*31G>C
ENST00000698873.1:c.*437G>C	ENSP00000513998.1:n.*437G>C
ENST00000698874.1:c.702G>C	ENSP00000513999.1:p.Gln234His
ENST00000698875.1:n.1102G>C
ENST00000698876.1:n.1181G>C
ENST00000698877.1:n.810G>C
ENST00000698878.1:c.1242G>C	ENSP00000514000.1:p.Gln414His
ENST00000698880.1:c.1082G>C
ENST00000345728.10:c.1242G>C MANE Select	ENSP00000339950.5:p.Gln414His
ENST00000279227.9:c.1254G>C	ENSP00000279227.5:p.Gln418His
ENST00000345728.9:c.1242G>C	ENSP00000339950.5:p.Gln414His
ENST00000540957.1:n.395G>C
ENST00000541326.5:n.549G>C
NM_031471.5:c.1242G>C	NP_113659.3:p.Gln414His
NM_178443.2:c.1254G>C , LRG_180t1:c.1254G>C	NP_848537.1:p.Gln418His
XM_011545294.1:c.1254G>C	XP_011543596.1:p.Gln418His
XM_011545295.1:c.714G>C	XP_011543597.1:p.Gln238His
XM_011545296.1:c.714G>C	XP_011543598.1:p.Gln238His
XM_011545294.3:c.1254G>C	XP_011543596.1:p.Gln418His
XM_011545295.2:c.714G>C	XP_011543597.1:p.Gln238His
XM_017018398.2:c.1242G>C	XP_016873887.1:p.Gln414His
XM_017018399.1:c.702G>C	XP_016873888.1:p.Gln234His
NM_031471.6:c.1242G>C MANE Select	NP_113659.3:p.Gln414His
NM_001382361.1:c.1242G>C	NP_001369290.1:p.Gln414His
NM_001382362.1:c.1254G>C	NP_001369291.1:p.Gln418His
NM_001382363.1:c.702G>C	NP_001369292.1:p.Gln234His
NM_001382364.1:c.714G>C	NP_001369293.1:p.Gln238His
NM_001382448.1:c.1242G>C	NP_001369377.1:p.Gln414His
NM_178443.3:c.1254G>C	NP_848537.1:p.Gln418His