Canonical Allele Identifier: CA381086954

Gene: FERMT3

Linked Data

• MyVariant Identifiers: chr11:g.63987701T>C (hg19) ; chr11:g.64220229T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220229T>C , CM000673.2:g.64220229T>C	GRCh38
NC_000011.9:g.63987701T>C , CM000673.1:g.63987701T>C	GRCh37
NC_000011.8:g.63744277T>C	NCBI36
NG_016360.1:g.18550T>C , LRG_180:g.18550T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1226T>C	ENSP00000279227.5:p.Val409Ala
ENST00000540554.2:n.2283T>C
ENST00000541252.2:c.674T>C	ENSP00000438885.2:p.Val225Ala
ENST00000541326.6:n.526T>C
ENST00000544997.6:c.1214T>C	ENSP00000445778.2:p.Val405Ala
ENST00000546255.2:n.1409T>C
ENST00000698845.1:c.*409T>C	ENSP00000513981.1:n.*409T>C
ENST00000698846.1:n.1351T>C
ENST00000698847.1:c.*619T>C	ENSP00000513982.1:n.*619T>C
ENST00000698848.1:n.403T>C
ENST00000698849.1:n.334T>C
ENST00000698850.1:n.873T>C
ENST00000698852.1:c.1214T>C	ENSP00000513984.1:p.Val405Ala
ENST00000698853.1:c.*443T>C	ENSP00000513985.1:n.*443T>C
ENST00000698854.1:c.*544T>C	ENSP00000513986.1:n.*544T>C
ENST00000698855.1:n.2866T>C
ENST00000698856.1:n.2451T>C
ENST00000698859.1:n.1378T>C
ENST00000698860.1:c.1226T>C	ENSP00000513988.1:p.Val409Ala
ENST00000698861.1:c.1214T>C	ENSP00000513989.1:p.Val405Ala
ENST00000698862.1:c.*510T>C	ENSP00000513990.1:n.*510T>C
ENST00000698863.1:c.1214T>C	ENSP00000513991.1:p.Val405Ala
ENST00000698864.1:n.1320T>C
ENST00000698865.1:c.1235T>C	ENSP00000513992.1:p.Val412Ala
ENST00000698866.1:c.*619T>C	ENSP00000513993.1:n.*619T>C
ENST00000698867.1:n.5189T>C
ENST00000698868.1:c.1079T>C	ENSP00000513994.1:p.Val360Ala
ENST00000698869.1:c.1214T>C	ENSP00000513995.1:p.Val405Ala
ENST00000698870.1:c.1214T>C	ENSP00000513996.1:p.Val405Ala
ENST00000698871.1:n.1737T>C
ENST00000698872.1:c.*3T>C	ENSP00000513997.1:n.*3T>C
ENST00000698873.1:c.*409T>C	ENSP00000513998.1:n.*409T>C
ENST00000698874.1:c.674T>C	ENSP00000513999.1:p.Val225Ala
ENST00000698875.1:n.1074T>C
ENST00000698876.1:n.1153T>C
ENST00000698877.1:n.782T>C
ENST00000698878.1:c.1214T>C	ENSP00000514000.1:p.Val405Ala
ENST00000698880.1:c.1054T>C
ENST00000345728.10:c.1214T>C MANE Select	ENSP00000339950.5:p.Val405Ala
ENST00000279227.9:c.1226T>C	ENSP00000279227.5:p.Val409Ala
ENST00000345728.9:c.1214T>C	ENSP00000339950.5:p.Val405Ala
ENST00000540957.1:n.367T>C
ENST00000541326.5:n.521T>C
NM_031471.5:c.1214T>C	NP_113659.3:p.Val405Ala
NM_178443.2:c.1226T>C , LRG_180t1:c.1226T>C	NP_848537.1:p.Val409Ala
XM_011545294.1:c.1226T>C	XP_011543596.1:p.Val409Ala
XM_011545295.1:c.686T>C	XP_011543597.1:p.Val229Ala
XM_011545296.1:c.686T>C	XP_011543598.1:p.Val229Ala
XM_011545294.3:c.1226T>C	XP_011543596.1:p.Val409Ala
XM_011545295.2:c.686T>C	XP_011543597.1:p.Val229Ala
XM_017018398.2:c.1214T>C	XP_016873887.1:p.Val405Ala
XM_017018399.1:c.674T>C	XP_016873888.1:p.Val225Ala
NM_031471.6:c.1214T>C MANE Select	NP_113659.3:p.Val405Ala
NM_001382361.1:c.1214T>C	NP_001369290.1:p.Val405Ala
NM_001382362.1:c.1226T>C	NP_001369291.1:p.Val409Ala
NM_001382363.1:c.674T>C	NP_001369292.1:p.Val225Ala
NM_001382364.1:c.686T>C	NP_001369293.1:p.Val229Ala
NM_001382448.1:c.1214T>C	NP_001369377.1:p.Val405Ala
NM_178443.3:c.1226T>C	NP_848537.1:p.Val409Ala