Canonical Allele Identifier: CA364457086

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52343887T>A (hg19) ; chr6:g.52479089T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479089T>A , CM000668.2:g.52479089T>A	GRCh38
NC_000006.11:g.52343887T>A , CM000668.1:g.52343887T>A	GRCh37
NC_000006.10:g.52451846T>A	NCBI36
NG_016760.1:g.63894T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1331T>A MANE Select	ENSP00000360107.4:p.Leu444Gln
ENST00000480623.6:c.1331T>A	ENSP00000434498.2:p.Leu444Gln
ENST00000635760.1:c.1007T>A	ENSP00000489765.1:p.Leu336Gln
ENST00000635812.1:c.*632T>A	ENSP00000490859.1:n.*632T>A
ENST00000635866.1:c.*1200T>A	ENSP00000489866.1:n.*1200T>A
ENST00000635911.1:n.2849T>A
ENST00000635984.1:c.1007T>A	ENSP00000489921.1:p.Leu336Gln
ENST00000635996.1:c.1331T>A	ENSP00000490256.1:p.Leu444Gln
ENST00000636107.1:c.1331T>A	ENSP00000489680.1:p.Leu444Gln
ENST00000636311.1:n.1225T>A
ENST00000636343.1:c.997T>A
ENST00000636379.1:c.1043T>A	ENSP00000490622.1:p.Leu348Gln
ENST00000636398.1:c.1031T>A	ENSP00000489654.1:n.1031T>A
ENST00000636489.1:c.1274T>A	ENSP00000489998.1:p.Leu425Gln
ENST00000636616.1:n.895-3T>A
ENST00000636702.1:c.1301T>A	ENSP00000489623.1:p.Leu434Gln
ENST00000636954.1:c.1274T>A	ENSP00000489966.1:p.Leu425Gln
ENST00000637089.1:c.1331T>A	ENSP00000489854.1:p.Leu444Gln
ENST00000637121.1:n.1133T>A
ENST00000637263.1:c.1331T>A	ENSP00000489700.1:p.Leu444Gln
ENST00000637340.1:n.3256T>A
ENST00000637353.1:c.1331T>A	ENSP00000490441.1:p.Leu444Gln
ENST00000637602.1:c.*1032T>A	ENSP00000490074.1:n.*1032T>A
ENST00000637849.1:n.1395T>A
ENST00000637874.1:c.276T>A	ENSP00000490348.1:n.276T>A
ENST00000637892.1:n.1535T>A
ENST00000371068.9:c.1331T>A	ENSP00000360107.4:p.Leu444Gln
ENST00000480623.5:c.*1751T>A	ENSP00000434498.1:n.*1751T>A
ENST00000538167.2:c.1274T>A	ENSP00000444521.1:p.Leu425Gln
NM_001172420.1:c.1274T>A	NP_001165891.1:p.Leu425Gln
NM_018100.3:c.1331T>A	NP_060570.2:p.Leu444Gln
NR_033327.1:n.2803T>A
NM_018100.4:c.1331T>A MANE Select	NP_060570.2:p.Leu444Gln
NM_001172420.2:c.1274T>A	NP_001165891.1:p.Leu425Gln
NR_033327.2:n.2657T>A