Canonical Allele Identifier: CA381087698

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220527-C-A
• MyVariant Identifiers: chr11:g.63987999C>A (hg19) ; chr11:g.64220527C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220527C>A , CM000673.2:g.64220527C>A	GRCh38
NC_000011.9:g.63987999C>A , CM000673.1:g.63987999C>A	GRCh37
NC_000011.8:g.63744575C>A	NCBI36
NG_016360.1:g.18848C>A , LRG_180:g.18848C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1415C>A	ENSP00000279227.5:p.Ala472Asp
ENST00000540554.2:n.2581C>A
ENST00000541252.2:c.863C>A	ENSP00000438885.2:p.Ala288Asp
ENST00000541326.6:n.824C>A
ENST00000544997.6:c.1403C>A	ENSP00000445778.2:p.Ala468Asp
ENST00000545896.2:c.92C>A	ENSP00000440209.2:p.Ala31Asp
ENST00000546255.2:n.1707C>A
ENST00000698845.1:c.*598C>A	ENSP00000513981.1:n.*598C>A
ENST00000698846.1:n.1649C>A
ENST00000698847.1:c.*808C>A	ENSP00000513982.1:n.*808C>A
ENST00000698849.1:n.523C>A
ENST00000698850.1:n.1171C>A
ENST00000698852.1:c.1403C>A	ENSP00000513984.1:p.Ala468Asp
ENST00000698853.1:c.*632C>A	ENSP00000513985.1:n.*632C>A
ENST00000698854.1:c.*733C>A	ENSP00000513986.1:n.*733C>A
ENST00000698855.1:n.3055C>A
ENST00000698856.1:n.2749C>A
ENST00000698859.1:n.1567C>A
ENST00000698860.1:c.1415C>A	ENSP00000513988.1:p.Ala472Asp
ENST00000698861.1:c.1403C>A	ENSP00000513989.1:p.Ala468Asp
ENST00000698862.1:c.*699C>A	ENSP00000513990.1:n.*699C>A
ENST00000698863.1:c.1403C>A	ENSP00000513991.1:p.Ala468Asp
ENST00000698864.1:n.1618C>A
ENST00000698865.1:c.1424C>A	ENSP00000513992.1:p.Ala475Asp
ENST00000698866.1:c.*917C>A	ENSP00000513993.1:n.*917C>A
ENST00000698867.1:n.5378C>A
ENST00000698868.1:c.1268C>A	ENSP00000513994.1:p.Ala423Asp
ENST00000698869.1:c.1311+201C>A	ENSP00000513995.1:n.1311+201C>A
ENST00000698870.1:c.1403C>A	ENSP00000513996.1:p.Ala468Asp
ENST00000698871.1:n.1926C>A
ENST00000698872.1:c.*192C>A	ENSP00000513997.1:n.*192C>A
ENST00000698873.1:c.*598C>A	ENSP00000513998.1:n.*598C>A
ENST00000698874.1:c.863C>A	ENSP00000513999.1:p.Ala288Asp
ENST00000698875.1:n.1263C>A
ENST00000698876.1:n.1451C>A
ENST00000698877.1:n.971C>A
ENST00000698878.1:c.1397C>A	ENSP00000514000.1:p.Ala466Asp
ENST00000698880.1:c.1271C>A
ENST00000345728.10:c.1403C>A MANE Select	ENSP00000339950.5:p.Ala468Asp
ENST00000279227.9:c.1415C>A	ENSP00000279227.5:p.Ala472Asp
ENST00000345728.9:c.1403C>A	ENSP00000339950.5:p.Ala468Asp
ENST00000541326.5:n.819C>A
ENST00000545896.1:c.91C>A	ENSP00000440209.1:p.Pro31Thr
NM_031471.5:c.1403C>A	NP_113659.3:p.Ala468Asp
NM_178443.2:c.1415C>A , LRG_180t1:c.1415C>A	NP_848537.1:p.Ala472Asp
XM_011545294.1:c.1415C>A	XP_011543596.1:p.Ala472Asp
XM_011545295.1:c.875C>A	XP_011543597.1:p.Ala292Asp
XM_011545296.1:c.875C>A	XP_011543598.1:p.Ala292Asp
XM_011545294.3:c.1415C>A	XP_011543596.1:p.Ala472Asp
XM_011545295.2:c.875C>A	XP_011543597.1:p.Ala292Asp
XM_017018398.2:c.1403C>A	XP_016873887.1:p.Ala468Asp
XM_017018399.1:c.863C>A	XP_016873888.1:p.Ala288Asp
NM_031471.6:c.1403C>A MANE Select	NP_113659.3:p.Ala468Asp
NM_001382361.1:c.1403C>A	NP_001369290.1:p.Ala468Asp
NM_001382362.1:c.1415C>A	NP_001369291.1:p.Ala472Asp
NM_001382363.1:c.863C>A	NP_001369292.1:p.Ala288Asp
NM_001382364.1:c.875C>A	NP_001369293.1:p.Ala292Asp
NM_001382448.1:c.1403C>A	NP_001369377.1:p.Ala468Asp
NM_178443.3:c.1415C>A	NP_848537.1:p.Ala472Asp