Canonical Allele Identifier: CA450423495

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52329790T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464992T>G , CM000668.2:g.52464992T>G	GRCh38
NC_000006.11:g.52329790T>G , CM000668.1:g.52329790T>G	GRCh37
NC_000006.10:g.52437749T>G	NCBI36
NG_016760.1:g.49797T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1014T>G MANE Select	ENSP00000360107.4:p.Leu338=
ENST00000480623.6:c.1014T>G	ENSP00000434498.2:p.Leu338=
ENST00000635760.1:c.690T>G	ENSP00000489765.1:p.Leu230=
ENST00000635812.1:c.*315T>G	ENSP00000490859.1:n.*315T>G
ENST00000635866.1:c.*883T>G	ENSP00000489866.1:n.*883T>G
ENST00000635911.1:n.2532T>G
ENST00000635984.1:c.690T>G	ENSP00000489921.1:p.Leu230=
ENST00000635996.1:c.1014T>G	ENSP00000490256.1:p.Leu338=
ENST00000636107.1:c.1014T>G	ENSP00000489680.1:p.Leu338=
ENST00000636311.1:n.908T>G
ENST00000636343.1:c.680T>G
ENST00000636379.1:c.726T>G	ENSP00000490622.1:p.Leu242=
ENST00000636398.1:c.714T>G	ENSP00000489654.1:n.714T>G
ENST00000636489.1:c.957T>G	ENSP00000489998.1:p.Leu319=
ENST00000636616.1:n.630T>G
ENST00000636702.1:c.984T>G	ENSP00000489623.1:p.Leu328=
ENST00000636954.1:c.957T>G	ENSP00000489966.1:p.Leu319=
ENST00000637089.1:c.1014T>G	ENSP00000489854.1:p.Leu338=
ENST00000637263.1:c.1014T>G	ENSP00000489700.1:p.Leu338=
ENST00000637340.1:n.2939T>G
ENST00000637353.1:c.1014T>G	ENSP00000490441.1:p.Leu338=
ENST00000637602.1:c.*715T>G	ENSP00000490074.1:n.*715T>G
ENST00000637849.1:n.1078T>G
ENST00000637874.1:c.83-4341T>G	ENSP00000490348.1:n.83-4341T>G
ENST00000637892.1:n.1218T>G
ENST00000371068.9:c.1014T>G	ENSP00000360107.4:p.Leu338=
ENST00000480623.5:c.*1434T>G	ENSP00000434498.1:n.*1434T>G
ENST00000538167.2:c.957T>G	ENSP00000444521.1:p.Leu319=
NM_001172420.1:c.957T>G	NP_001165891.1:p.Leu319=
NM_018100.3:c.1014T>G	NP_060570.2:p.Leu338=
NR_033327.1:n.2486T>G
NM_018100.4:c.1014T>G MANE Select	NP_060570.2:p.Leu338=
NM_001172420.2:c.957T>G	NP_001165891.1:p.Leu319=
NR_033327.2:n.2340T>G