Canonical Allele Identifier: CA364455490

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52329731G>T (hg19) ; chr6:g.52464933G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464933G>T , CM000668.2:g.52464933G>T	GRCh38
NC_000006.11:g.52329731G>T , CM000668.1:g.52329731G>T	GRCh37
NC_000006.10:g.52437690G>T	NCBI36
NG_016760.1:g.49738G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.955G>T MANE Select	ENSP00000360107.4:p.Glu319Ter
ENST00000480623.6:c.955G>T	ENSP00000434498.2:p.Glu319Ter
ENST00000635760.1:c.631G>T	ENSP00000489765.1:p.Glu211Ter
ENST00000635812.1:c.*256G>T	ENSP00000490859.1:n.*256G>T
ENST00000635866.1:c.*824G>T	ENSP00000489866.1:n.*824G>T
ENST00000635911.1:n.2473G>T
ENST00000635984.1:c.631G>T	ENSP00000489921.1:p.Glu211Ter
ENST00000635996.1:c.955G>T	ENSP00000490256.1:p.Glu319Ter
ENST00000636107.1:c.955G>T	ENSP00000489680.1:p.Glu319Ter
ENST00000636311.1:n.849G>T
ENST00000636343.1:c.621G>T
ENST00000636379.1:c.667G>T	ENSP00000490622.1:p.Glu223Ter
ENST00000636398.1:c.655G>T	ENSP00000489654.1:n.655G>T
ENST00000636489.1:c.898G>T	ENSP00000489998.1:p.Glu300Ter
ENST00000636616.1:n.571G>T
ENST00000636702.1:c.925G>T	ENSP00000489623.1:p.Glu309Ter
ENST00000636954.1:c.898G>T	ENSP00000489966.1:p.Glu300Ter
ENST00000637089.1:c.955G>T	ENSP00000489854.1:p.Glu319Ter
ENST00000637263.1:c.955G>T	ENSP00000489700.1:p.Glu319Ter
ENST00000637340.1:n.2880G>T
ENST00000637353.1:c.955G>T	ENSP00000490441.1:p.Glu319Ter
ENST00000637602.1:c.*656G>T	ENSP00000490074.1:n.*656G>T
ENST00000637849.1:n.1019G>T
ENST00000637874.1:c.83-4400G>T	ENSP00000490348.1:n.83-4400G>T
ENST00000637892.1:n.1159G>T
ENST00000371068.9:c.955G>T	ENSP00000360107.4:p.Glu319Ter
ENST00000480623.5:c.*1375G>T	ENSP00000434498.1:n.*1375G>T
ENST00000538167.2:c.898G>T	ENSP00000444521.1:p.Glu300Ter
NM_001172420.1:c.898G>T	NP_001165891.1:p.Glu300Ter
NM_018100.3:c.955G>T	NP_060570.2:p.Glu319Ter
NR_033327.1:n.2427G>T
NM_018100.4:c.955G>T MANE Select	NP_060570.2:p.Glu319Ter
NM_001172420.2:c.898G>T	NP_001165891.1:p.Glu300Ter
NR_033327.2:n.2281G>T