Canonical Allele Identifier: CA2679104069
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52464921dup , CM000668.2:g.52464921dup GRCh38
NC_000006.11:g.52329719dup , CM000668.1:g.52329719dup GRCh37
NC_000006.10:g.52437678dup NCBI36
NG_016760.1:g.49726dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.943dup MANE Select ENSP00000360107.4:p.Ile315AsnfsTer3
ENST00000480623.6:c.943dup ENSP00000434498.2:p.Ile315AsnfsTer3
ENST00000635760.1:c.619dup ENSP00000489765.1:p.Ile207AsnfsTer3
ENST00000635812.1:c.*244dup ENSP00000490859.1:n.*244dup
ENST00000635866.1:c.*812dup ENSP00000489866.1:n.*812dup
ENST00000635911.1:n.2461dup
ENST00000635984.1:c.619dup ENSP00000489921.1:p.Ile207AsnfsTer3
ENST00000635996.1:c.943dup ENSP00000490256.1:p.Ile315AsnfsTer3
ENST00000636107.1:c.943dup ENSP00000489680.1:p.Ile315AsnfsTer3
ENST00000636311.1:n.837dup
ENST00000636343.1:c.609dup
ENST00000636379.1:c.655dup ENSP00000490622.1:p.Ile219AsnfsTer3
ENST00000636398.1:c.643dup ENSP00000489654.1:n.643dup
ENST00000636489.1:c.886dup ENSP00000489998.1:p.Ile296AsnfsTer3
ENST00000636616.1:n.559dup
ENST00000636702.1:c.913dup ENSP00000489623.1:p.Ile305AsnfsTer3
ENST00000636954.1:c.886dup ENSP00000489966.1:p.Ile296AsnfsTer3
ENST00000637089.1:c.943dup ENSP00000489854.1:p.Ile315AsnfsTer3
ENST00000637263.1:c.943dup ENSP00000489700.1:p.Ile315AsnfsTer3
ENST00000637340.1:n.2868dup
ENST00000637353.1:c.943dup ENSP00000490441.1:p.Ile315AsnfsTer3
ENST00000637602.1:c.*644dup ENSP00000490074.1:n.*644dup
ENST00000637849.1:n.1007dup
ENST00000637874.1:c.83-4412dup ENSP00000490348.1:n.83-4412dup
ENST00000637892.1:n.1147dup
ENST00000371068.9:c.943dup ENSP00000360107.4:p.Ile315AsnfsTer3
ENST00000480623.5:c.*1363dup ENSP00000434498.1:n.*1363dup
ENST00000538167.2:c.886dup ENSP00000444521.1:p.Ile296AsnfsTer3
NM_001172420.1:c.886dup NP_001165891.1:p.Ile296AsnfsTer3
NM_018100.3:c.943dup NP_060570.2:p.Ile315AsnfsTer3
NR_033327.1:n.2415dup
NM_018100.4:c.943dup MANE Select NP_060570.2:p.Ile315AsnfsTer3
NM_001172420.2:c.886dup NP_001165891.1:p.Ile296AsnfsTer3
NR_033327.2:n.2269dup