Canonical Allele Identifier: CA364455454

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52329727C>G (hg19) ; chr6:g.52464929C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464929C>G , CM000668.2:g.52464929C>G	GRCh38
NC_000006.11:g.52329727C>G , CM000668.1:g.52329727C>G	GRCh37
NC_000006.10:g.52437686C>G	NCBI36
NG_016760.1:g.49734C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.951C>G MANE Select	ENSP00000360107.4:p.Asp317Glu
ENST00000480623.6:c.951C>G	ENSP00000434498.2:p.Asp317Glu
ENST00000635760.1:c.627C>G	ENSP00000489765.1:p.Asp209Glu
ENST00000635812.1:c.*252C>G	ENSP00000490859.1:n.*252C>G
ENST00000635866.1:c.*820C>G	ENSP00000489866.1:n.*820C>G
ENST00000635911.1:n.2469C>G
ENST00000635984.1:c.627C>G	ENSP00000489921.1:p.Asp209Glu
ENST00000635996.1:c.951C>G	ENSP00000490256.1:p.Asp317Glu
ENST00000636107.1:c.951C>G	ENSP00000489680.1:p.Asp317Glu
ENST00000636311.1:n.845C>G
ENST00000636343.1:c.617C>G
ENST00000636379.1:c.663C>G	ENSP00000490622.1:p.Asp221Glu
ENST00000636398.1:c.651C>G	ENSP00000489654.1:n.651C>G
ENST00000636489.1:c.894C>G	ENSP00000489998.1:p.Asp298Glu
ENST00000636616.1:n.567C>G
ENST00000636702.1:c.921C>G	ENSP00000489623.1:p.Asp307Glu
ENST00000636954.1:c.894C>G	ENSP00000489966.1:p.Asp298Glu
ENST00000637089.1:c.951C>G	ENSP00000489854.1:p.Asp317Glu
ENST00000637263.1:c.951C>G	ENSP00000489700.1:p.Asp317Glu
ENST00000637340.1:n.2876C>G
ENST00000637353.1:c.951C>G	ENSP00000490441.1:p.Asp317Glu
ENST00000637602.1:c.*652C>G	ENSP00000490074.1:n.*652C>G
ENST00000637849.1:n.1015C>G
ENST00000637874.1:c.83-4404C>G	ENSP00000490348.1:n.83-4404C>G
ENST00000637892.1:n.1155C>G
ENST00000371068.9:c.951C>G	ENSP00000360107.4:p.Asp317Glu
ENST00000480623.5:c.*1371C>G	ENSP00000434498.1:n.*1371C>G
ENST00000538167.2:c.894C>G	ENSP00000444521.1:p.Asp298Glu
NM_001172420.1:c.894C>G	NP_001165891.1:p.Asp298Glu
NM_018100.3:c.951C>G	NP_060570.2:p.Asp317Glu
NR_033327.1:n.2423C>G
NM_018100.4:c.951C>G MANE Select	NP_060570.2:p.Asp317Glu
NM_001172420.2:c.894C>G	NP_001165891.1:p.Asp298Glu
NR_033327.2:n.2277C>G