Canonical Allele Identifier: CA450423465

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52329766T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464968T>A , CM000668.2:g.52464968T>A	GRCh38
NC_000006.11:g.52329766T>A , CM000668.1:g.52329766T>A	GRCh37
NC_000006.10:g.52437725T>A	NCBI36
NG_016760.1:g.49773T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.990T>A MANE Select	ENSP00000360107.4:p.Ile330=
ENST00000480623.6:c.990T>A	ENSP00000434498.2:p.Ile330=
ENST00000635760.1:c.666T>A	ENSP00000489765.1:p.Ile222=
ENST00000635812.1:c.*291T>A	ENSP00000490859.1:n.*291T>A
ENST00000635866.1:c.*859T>A	ENSP00000489866.1:n.*859T>A
ENST00000635911.1:n.2508T>A
ENST00000635984.1:c.666T>A	ENSP00000489921.1:p.Ile222=
ENST00000635996.1:c.990T>A	ENSP00000490256.1:p.Ile330=
ENST00000636107.1:c.990T>A	ENSP00000489680.1:p.Ile330=
ENST00000636311.1:n.884T>A
ENST00000636343.1:c.656T>A
ENST00000636379.1:c.702T>A	ENSP00000490622.1:p.Ile234=
ENST00000636398.1:c.690T>A	ENSP00000489654.1:n.690T>A
ENST00000636489.1:c.933T>A	ENSP00000489998.1:p.Ile311=
ENST00000636616.1:n.606T>A
ENST00000636702.1:c.960T>A	ENSP00000489623.1:p.Ile320=
ENST00000636954.1:c.933T>A	ENSP00000489966.1:p.Ile311=
ENST00000637089.1:c.990T>A	ENSP00000489854.1:p.Ile330=
ENST00000637263.1:c.990T>A	ENSP00000489700.1:p.Ile330=
ENST00000637340.1:n.2915T>A
ENST00000637353.1:c.990T>A	ENSP00000490441.1:p.Ile330=
ENST00000637602.1:c.*691T>A	ENSP00000490074.1:n.*691T>A
ENST00000637849.1:n.1054T>A
ENST00000637874.1:c.83-4365T>A	ENSP00000490348.1:n.83-4365T>A
ENST00000637892.1:n.1194T>A
ENST00000371068.9:c.990T>A	ENSP00000360107.4:p.Ile330=
ENST00000480623.5:c.*1410T>A	ENSP00000434498.1:n.*1410T>A
ENST00000538167.2:c.933T>A	ENSP00000444521.1:p.Ile311=
NM_001172420.1:c.933T>A	NP_001165891.1:p.Ile311=
NM_018100.3:c.990T>A	NP_060570.2:p.Ile330=
NR_033327.1:n.2462T>A
NM_018100.4:c.990T>A MANE Select	NP_060570.2:p.Ile330=
NM_001172420.2:c.933T>A	NP_001165891.1:p.Ile311=
NR_033327.2:n.2316T>A