Canonical Allele Identifier: CA364457854

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52344461C>G (hg19) ; chr6:g.52479663C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479663C>G , CM000668.2:g.52479663C>G	GRCh38
NC_000006.11:g.52344461C>G , CM000668.1:g.52344461C>G	GRCh37
NC_000006.10:g.52452420C>G	NCBI36
NG_016760.1:g.64468C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.1516C>G MANE Select	ENSP00000360107.4:p.Leu506Val
ENST00000480623.6:c.1516C>G	ENSP00000434498.2:p.Leu506Val
ENST00000635760.1:c.1192C>G	ENSP00000489765.1:p.Leu398Val
ENST00000635812.1:c.*817C>G	ENSP00000490859.1:n.*817C>G
ENST00000635866.1:c.*1385C>G	ENSP00000489866.1:n.*1385C>G
ENST00000635911.1:n.3034C>G
ENST00000635984.1:c.1192C>G	ENSP00000489921.1:p.Leu398Val
ENST00000635996.1:c.1516C>G	ENSP00000490256.1:p.Leu506Val
ENST00000636107.1:c.1516C>G	ENSP00000489680.1:p.Leu506Val
ENST00000636311.1:n.1410C>G
ENST00000636343.1:c.1182C>G
ENST00000636379.1:c.1228C>G	ENSP00000490622.1:p.Leu410Val
ENST00000636398.1:c.1216C>G	ENSP00000489654.1:n.1216C>G
ENST00000636489.1:c.1459C>G	ENSP00000489998.1:p.Leu487Val
ENST00000636616.1:n.1077C>G
ENST00000636702.1:c.1486C>G	ENSP00000489623.1:p.Leu496Val
ENST00000636954.1:c.1459C>G	ENSP00000489966.1:p.Leu487Val
ENST00000637089.1:c.1516C>G	ENSP00000489854.1:p.Leu506Val
ENST00000637121.1:n.1318C>G
ENST00000637263.1:c.1516C>G	ENSP00000489700.1:p.Leu506Val
ENST00000637340.1:n.3441C>G
ENST00000637353.1:c.1516C>G	ENSP00000490441.1:p.Leu506Val
ENST00000637602.1:c.*1217C>G	ENSP00000490074.1:n.*1217C>G
ENST00000637849.1:n.1580C>G
ENST00000637874.1:c.461C>G	ENSP00000490348.1:n.461C>G
ENST00000637892.1:n.1720C>G
ENST00000371068.9:c.1516C>G	ENSP00000360107.4:p.Leu506Val
ENST00000480623.5:c.*1936C>G	ENSP00000434498.1:n.*1936C>G
ENST00000538167.2:c.1459C>G	ENSP00000444521.1:p.Leu487Val
NM_001172420.1:c.1459C>G	NP_001165891.1:p.Leu487Val
NM_018100.3:c.1516C>G	NP_060570.2:p.Leu506Val
NR_033327.1:n.2988C>G
NM_018100.4:c.1516C>G MANE Select	NP_060570.2:p.Leu506Val
NM_001172420.2:c.1459C>G	NP_001165891.1:p.Leu487Val
NR_033327.2:n.2842C>G