Canonical Allele Identifier: CA364458144

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52344521G>T (hg19) ; chr6:g.52479723G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479723G>T , CM000668.2:g.52479723G>T	GRCh38
NC_000006.11:g.52344521G>T , CM000668.1:g.52344521G>T	GRCh37
NC_000006.10:g.52452480G>T	NCBI36
NG_016760.1:g.64528G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1576G>T MANE Select	ENSP00000360107.4:p.Glu526Ter
ENST00000480623.6:c.1576G>T	ENSP00000434498.2:p.Glu526Ter
ENST00000635760.1:c.1252G>T	ENSP00000489765.1:p.Glu418Ter
ENST00000635812.1:c.*877G>T	ENSP00000490859.1:n.*877G>T
ENST00000635866.1:c.*1445G>T	ENSP00000489866.1:n.*1445G>T
ENST00000635911.1:n.3094G>T
ENST00000635984.1:c.1252G>T	ENSP00000489921.1:p.Glu418Ter
ENST00000635996.1:c.1576G>T	ENSP00000490256.1:p.Glu526Ter
ENST00000636107.1:c.1576G>T	ENSP00000489680.1:p.Glu526Ter
ENST00000636311.1:n.1470G>T
ENST00000636343.1:c.1242G>T
ENST00000636379.1:c.1288G>T	ENSP00000490622.1:p.Glu430Ter
ENST00000636398.1:c.1276G>T	ENSP00000489654.1:n.1276G>T
ENST00000636489.1:c.1519G>T	ENSP00000489998.1:p.Glu507Ter
ENST00000636616.1:n.1137G>T
ENST00000636702.1:c.1546G>T	ENSP00000489623.1:p.Glu516Ter
ENST00000636954.1:c.1519G>T	ENSP00000489966.1:p.Glu507Ter
ENST00000637089.1:c.1576G>T	ENSP00000489854.1:p.Glu526Ter
ENST00000637121.1:n.1378G>T
ENST00000637263.1:c.1576G>T	ENSP00000489700.1:p.Glu526Ter
ENST00000637340.1:n.3501G>T
ENST00000637353.1:c.1576G>T	ENSP00000490441.1:p.Glu526Ter
ENST00000637602.1:c.*1277G>T	ENSP00000490074.1:n.*1277G>T
ENST00000637849.1:n.1640G>T
ENST00000637892.1:n.1780G>T
ENST00000371068.9:c.1576G>T	ENSP00000360107.4:p.Glu526Ter
ENST00000480623.5:c.*1996G>T	ENSP00000434498.1:n.*1996G>T
ENST00000538167.2:c.1519G>T	ENSP00000444521.1:p.Glu507Ter
NM_001172420.1:c.1519G>T	NP_001165891.1:p.Glu507Ter
NM_018100.3:c.1576G>T	NP_060570.2:p.Glu526Ter
NR_033327.1:n.3048G>T
NM_018100.4:c.1576G>T MANE Select	NP_060570.2:p.Glu526Ter
NM_001172420.2:c.1519G>T	NP_001165891.1:p.Glu507Ter
NR_033327.2:n.2902G>T