Canonical Allele Identifier: CA364457766

Gene: EFHC1

Linked Data

• dbSNP Id: rs1765627844
• MyVariant Identifiers: chr6:g.52344446C>G (hg19) ; chr6:g.52479648C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479648C>G , CM000668.2:g.52479648C>G	GRCh38
NC_000006.11:g.52344446C>G , CM000668.1:g.52344446C>G	GRCh37
NC_000006.10:g.52452405C>G	NCBI36
NG_016760.1:g.64453C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1501C>G MANE Select	ENSP00000360107.4:p.His501Asp
ENST00000480623.6:c.1501C>G	ENSP00000434498.2:p.His501Asp
ENST00000635760.1:c.1177C>G	ENSP00000489765.1:p.His393Asp
ENST00000635812.1:c.*802C>G	ENSP00000490859.1:n.*802C>G
ENST00000635866.1:c.*1370C>G	ENSP00000489866.1:n.*1370C>G
ENST00000635911.1:n.3019C>G
ENST00000635984.1:c.1177C>G	ENSP00000489921.1:p.His393Asp
ENST00000635996.1:c.1501C>G	ENSP00000490256.1:p.His501Asp
ENST00000636107.1:c.1501C>G	ENSP00000489680.1:p.His501Asp
ENST00000636311.1:n.1395C>G
ENST00000636343.1:c.1167C>G
ENST00000636379.1:c.1213C>G	ENSP00000490622.1:p.His405Asp
ENST00000636398.1:c.1201C>G	ENSP00000489654.1:n.1201C>G
ENST00000636489.1:c.1444C>G	ENSP00000489998.1:p.His482Asp
ENST00000636616.1:n.1062C>G
ENST00000636702.1:c.1471C>G	ENSP00000489623.1:p.His491Asp
ENST00000636954.1:c.1444C>G	ENSP00000489966.1:p.His482Asp
ENST00000637089.1:c.1501C>G	ENSP00000489854.1:p.His501Asp
ENST00000637121.1:n.1303C>G
ENST00000637263.1:c.1501C>G	ENSP00000489700.1:p.His501Asp
ENST00000637340.1:n.3426C>G
ENST00000637353.1:c.1501C>G	ENSP00000490441.1:p.His501Asp
ENST00000637602.1:c.*1202C>G	ENSP00000490074.1:n.*1202C>G
ENST00000637849.1:n.1565C>G
ENST00000637874.1:c.446C>G	ENSP00000490348.1:n.446C>G
ENST00000637892.1:n.1705C>G
ENST00000371068.9:c.1501C>G	ENSP00000360107.4:p.His501Asp
ENST00000480623.5:c.*1921C>G	ENSP00000434498.1:n.*1921C>G
ENST00000538167.2:c.1444C>G	ENSP00000444521.1:p.His482Asp
NM_001172420.1:c.1444C>G	NP_001165891.1:p.His482Asp
NM_018100.3:c.1501C>G	NP_060570.2:p.His501Asp
NR_033327.1:n.2973C>G
NM_018100.4:c.1501C>G MANE Select	NP_060570.2:p.His501Asp
NM_001172420.2:c.1444C>G	NP_001165891.1:p.His482Asp
NR_033327.2:n.2827C>G