Canonical Allele Identifier: CA1628833368
Gene: EFHC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52479759C= , CM000668.2:g.52479759C= GRCh38
NC_000006.11:g.52344557C= , CM000668.1:g.52344557C= GRCh37
NC_000006.10:g.52452516C= NCBI36
NG_016760.1:g.64564C=

Transcript Alleles

HGVS Amino-acid Change
NM_018100.4:c.1612C= MANE Select NP_060570.2:p.Arg538=
ENST00000371068.11:c.1612C= MANE Select ENSP00000360107.4:p.Arg538=
NM_001172420.1:c.1555C= NP_001165891.1:p.Arg519=
NM_001172420.2:c.1555C= NP_001165891.1:p.Arg519=
NM_018100.3:c.1612C= NP_060570.2:p.Arg538=
NR_033327.1:n.3084C=
NR_033327.2:n.2938C=
ENST00000371068.9:c.1612C= ENSP00000360107.4:p.Arg538=
ENST00000480623.5:c.*2032C= ENSP00000434498.1:n.*2032C=
ENST00000480623.6:c.1612C= ENSP00000434498.2:p.Arg538=
ENST00000538167.2:c.1555C= ENSP00000444521.1:p.Arg519=
ENST00000635760.1:c.1288C= ENSP00000489765.1:p.Arg430=
ENST00000635812.1:c.*913C= ENSP00000490859.1:n.*913C=
ENST00000635866.1:c.*1481C= ENSP00000489866.1:n.*1481C=
ENST00000635911.1:n.3130C=
ENST00000635984.1:c.1288C= ENSP00000489921.1:p.Arg430=
ENST00000635996.1:c.1612C= ENSP00000490256.1:p.Arg538=
ENST00000636107.1:c.1612C= ENSP00000489680.1:p.Arg538=
ENST00000636311.1:n.1506C=
ENST00000636343.1:c.1278C=
ENST00000636379.1:c.1324C= ENSP00000490622.1:p.Arg442=
ENST00000636398.1:c.1312C= ENSP00000489654.1:n.1312C=
ENST00000636489.1:c.1555C= ENSP00000489998.1:p.Arg519=
ENST00000636616.1:n.1173C=
ENST00000636702.1:c.1582C= ENSP00000489623.1:p.Arg528=
ENST00000636954.1:c.1555C= ENSP00000489966.1:p.Arg519=
ENST00000637089.1:c.1612C= ENSP00000489854.1:p.Arg538=
ENST00000637121.1:n.1414C=
ENST00000637263.1:c.1612C= ENSP00000489700.1:p.Arg538=
ENST00000637340.1:n.3537C=
ENST00000637353.1:c.1612C= ENSP00000490441.1:p.Arg538=
ENST00000637602.1:c.*1313C= ENSP00000490074.1:n.*1313C=
ENST00000637849.1:n.1676C=
ENST00000637892.1:n.1816C=