Canonical Allele Identifier: CA364458261

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52344581G>T (hg19) ; chr6:g.52479783G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479783G>T , CM000668.2:g.52479783G>T	GRCh38
NC_000006.11:g.52344581G>T , CM000668.1:g.52344581G>T	GRCh37
NC_000006.10:g.52452540G>T	NCBI36
NG_016760.1:g.64588G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1636G>T MANE Select	ENSP00000360107.4:p.Glu546Ter
ENST00000480623.6:c.1636G>T	ENSP00000434498.2:p.Glu546Ter
ENST00000635760.1:c.1312G>T	ENSP00000489765.1:p.Glu438Ter
ENST00000635812.1:c.*937G>T	ENSP00000490859.1:n.*937G>T
ENST00000635866.1:c.*1505G>T	ENSP00000489866.1:n.*1505G>T
ENST00000635911.1:n.3154G>T
ENST00000635984.1:c.1312G>T	ENSP00000489921.1:p.Glu438Ter
ENST00000635996.1:c.1636G>T	ENSP00000490256.1:p.Glu546Ter
ENST00000636107.1:c.1636G>T	ENSP00000489680.1:p.Glu546Ter
ENST00000636311.1:n.1530G>T
ENST00000636343.1:c.1302G>T
ENST00000636379.1:c.1348G>T	ENSP00000490622.1:p.Glu450Ter
ENST00000636398.1:c.1336G>T	ENSP00000489654.1:n.1336G>T
ENST00000636489.1:c.1579G>T	ENSP00000489998.1:p.Glu527Ter
ENST00000636616.1:n.1197G>T
ENST00000636702.1:c.1606G>T	ENSP00000489623.1:p.Glu536Ter
ENST00000636954.1:c.1579G>T	ENSP00000489966.1:p.Glu527Ter
ENST00000637089.1:c.1636G>T	ENSP00000489854.1:p.Glu546Ter
ENST00000637121.1:n.1438G>T
ENST00000637263.1:c.1636G>T	ENSP00000489700.1:p.Glu546Ter
ENST00000637340.1:n.3561G>T
ENST00000637353.1:c.1636G>T	ENSP00000490441.1:p.Glu546Ter
ENST00000637602.1:c.*1337G>T	ENSP00000490074.1:n.*1337G>T
ENST00000637849.1:n.1700G>T
ENST00000637892.1:n.1840G>T
ENST00000371068.9:c.1636G>T	ENSP00000360107.4:p.Glu546Ter
ENST00000480623.5:c.*2056G>T	ENSP00000434498.1:n.*2056G>T
ENST00000538167.2:c.1579G>T	ENSP00000444521.1:p.Glu527Ter
NM_001172420.1:c.1579G>T	NP_001165891.1:p.Glu527Ter
NM_018100.3:c.1636G>T	NP_060570.2:p.Glu546Ter
NR_033327.1:n.3108G>T
NM_018100.4:c.1636G>T MANE Select	NP_060570.2:p.Glu546Ter
NM_001172420.2:c.1579G>T	NP_001165891.1:p.Glu527Ter
NR_033327.2:n.2962G>T