Canonical Allele Identifier: CA364458160

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52344528T>G (hg19) ; chr6:g.52479730T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479730T>G , CM000668.2:g.52479730T>G	GRCh38
NC_000006.11:g.52344528T>G , CM000668.1:g.52344528T>G	GRCh37
NC_000006.10:g.52452487T>G	NCBI36
NG_016760.1:g.64535T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1583T>G MANE Select	ENSP00000360107.4:p.Leu528Arg
ENST00000480623.6:c.1583T>G	ENSP00000434498.2:p.Leu528Arg
ENST00000635760.1:c.1259T>G	ENSP00000489765.1:p.Leu420Arg
ENST00000635812.1:c.*884T>G	ENSP00000490859.1:n.*884T>G
ENST00000635866.1:c.*1452T>G	ENSP00000489866.1:n.*1452T>G
ENST00000635911.1:n.3101T>G
ENST00000635984.1:c.1259T>G	ENSP00000489921.1:p.Leu420Arg
ENST00000635996.1:c.1583T>G	ENSP00000490256.1:p.Leu528Arg
ENST00000636107.1:c.1583T>G	ENSP00000489680.1:p.Leu528Arg
ENST00000636311.1:n.1477T>G
ENST00000636343.1:c.1249T>G
ENST00000636379.1:c.1295T>G	ENSP00000490622.1:p.Leu432Arg
ENST00000636398.1:c.1283T>G	ENSP00000489654.1:n.1283T>G
ENST00000636489.1:c.1526T>G	ENSP00000489998.1:p.Leu509Arg
ENST00000636616.1:n.1144T>G
ENST00000636702.1:c.1553T>G	ENSP00000489623.1:p.Leu518Arg
ENST00000636954.1:c.1526T>G	ENSP00000489966.1:p.Leu509Arg
ENST00000637089.1:c.1583T>G	ENSP00000489854.1:p.Leu528Arg
ENST00000637121.1:n.1385T>G
ENST00000637263.1:c.1583T>G	ENSP00000489700.1:p.Leu528Arg
ENST00000637340.1:n.3508T>G
ENST00000637353.1:c.1583T>G	ENSP00000490441.1:p.Leu528Arg
ENST00000637602.1:c.*1284T>G	ENSP00000490074.1:n.*1284T>G
ENST00000637849.1:n.1647T>G
ENST00000637892.1:n.1787T>G
ENST00000371068.9:c.1583T>G	ENSP00000360107.4:p.Leu528Arg
ENST00000480623.5:c.*2003T>G	ENSP00000434498.1:n.*2003T>G
ENST00000538167.2:c.1526T>G	ENSP00000444521.1:p.Leu509Arg
NM_001172420.1:c.1526T>G	NP_001165891.1:p.Leu509Arg
NM_018100.3:c.1583T>G	NP_060570.2:p.Leu528Arg
NR_033327.1:n.3055T>G
NM_018100.4:c.1583T>G MANE Select	NP_060570.2:p.Leu528Arg
NM_001172420.2:c.1526T>G	NP_001165891.1:p.Leu509Arg
NR_033327.2:n.2909T>G