Canonical Allele Identifier: CA450424042
Community Standard Title: NM_018100.4(EFHC1):c.378A>G (p.Leu126=)
Gene: EFHC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52438396A>G , CM000668.2:g.52438396A>G GRCh38
NC_000006.11:g.52303194A>G , CM000668.1:g.52303194A>G GRCh37
NC_000006.10:g.52411153A>G NCBI36
NG_016760.1:g.23201A>G

Transcript Alleles

HGVS Amino-acid Change
NM_018100.4:c.378A>G MANE Select NP_060570.2:p.Leu126=
ENST00000371068.11:c.378A>G MANE Select ENSP00000360107.4:p.Leu126=
NM_001172420.1:c.321A>G NP_001165891.1:p.Leu107=
NM_001172420.2:c.321A>G NP_001165891.1:p.Leu107=
NM_018100.3:c.378A>G NP_060570.2:p.Leu126=
NR_033327.1:n.593A>G
NR_033327.2:n.447A>G
ENST00000371068.9:c.378A>G ENSP00000360107.4:p.Leu126=
ENST00000480623.5:c.378A>G ENSP00000434498.1:p.Leu126=
ENST00000480623.6:c.378A>G ENSP00000434498.2:p.Leu126=
ENST00000491749.1:n.737A>G
ENST00000538167.2:c.321A>G ENSP00000444521.1:p.Leu107=
ENST00000635760.1:c.54A>G ENSP00000489765.1:p.Leu18=
ENST00000635812.1:c.378A>G ENSP00000490859.1:p.Leu126=
ENST00000635866.1:c.*247A>G ENSP00000489866.1:n.*247A>G
ENST00000635911.1:n.639A>G
ENST00000635984.1:c.54A>G ENSP00000489921.1:p.Leu18=
ENST00000635996.1:c.378A>G ENSP00000490256.1:p.Leu126=
ENST00000636107.1:c.378A>G ENSP00000489680.1:p.Leu126=
ENST00000636253.1:n.32A>G
ENST00000636311.1:n.409A>G
ENST00000636343.1:c.44A>G
ENST00000636379.1:c.285+14229A>G ENSP00000490622.1:n.285+14229A>G
ENST00000636398.1:c.45A>G ENSP00000489654.1:p.Leu15=
ENST00000636489.1:c.321A>G ENSP00000489998.1:p.Leu107=
ENST00000636566.1:c.54A>G ENSP00000490602.1:p.Leu18=
ENST00000636702.1:c.348A>G ENSP00000489623.1:p.Leu116=
ENST00000636954.1:c.321A>G ENSP00000489966.1:p.Leu107=
ENST00000637089.1:c.378A>G ENSP00000489854.1:p.Leu126=
ENST00000637200.1:c.*394A>G ENSP00000490567.1:n.*394A>G
ENST00000637263.1:c.378A>G ENSP00000489700.1:p.Leu126=
ENST00000637315.1:c.360A>G ENSP00000489708.1:p.Leu120=
ENST00000637340.1:n.1046A>G
ENST00000637353.1:c.378A>G ENSP00000490441.1:p.Leu126=
ENST00000637602.1:c.*79A>G ENSP00000490074.1:n.*79A>G
ENST00000637849.1:n.442A>G
ENST00000637892.1:n.582A>G
ENST00000638075.1:c.-183+21A>G ENSP00000490711.1:n.-183+21A>G