Canonical Allele Identifier: CA16605059
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383453
dbSNP Id: rs1057521631

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000371068.11:c.943A>T MANE Select ENSP00000360107.4:p.Ile315Phe
ENST00000480623.6:c.943A>T ENSP00000434498.2:p.Ile315Phe
ENST00000635760.1:c.619A>T ENSP00000489765.1:p.Ile207Phe
ENST00000635812.1:c.*244A>T ENSP00000490859.1:n.*244A>T
ENST00000635866.1:c.*812A>T ENSP00000489866.1:n.*812A>T
ENST00000635911.1:n.2461A>T
ENST00000635984.1:c.619A>T ENSP00000489921.1:p.Ile207Phe
ENST00000635996.1:c.943A>T ENSP00000490256.1:p.Ile315Phe
ENST00000636107.1:c.943A>T ENSP00000489680.1:p.Ile315Phe
ENST00000636311.1:n.837A>T
ENST00000636343.1:c.609A>T
ENST00000636379.1:c.655A>T ENSP00000490622.1:p.Ile219Phe
ENST00000636398.1:c.643A>T ENSP00000489654.1:n.643A>T
ENST00000636489.1:c.886A>T ENSP00000489998.1:p.Ile296Phe
ENST00000636616.1:n.559A>T
ENST00000636702.1:c.913A>T ENSP00000489623.1:p.Ile305Phe
ENST00000636954.1:c.886A>T ENSP00000489966.1:p.Ile296Phe
ENST00000637089.1:c.943A>T ENSP00000489854.1:p.Ile315Phe
ENST00000637263.1:c.943A>T ENSP00000489700.1:p.Ile315Phe
ENST00000637340.1:n.2868A>T
ENST00000637353.1:c.943A>T ENSP00000490441.1:p.Ile315Phe
ENST00000637602.1:c.*644A>T ENSP00000490074.1:n.*644A>T
ENST00000637849.1:n.1007A>T
ENST00000637874.1:c.83-4412A>T ENSP00000490348.1:n.83-4412A>T
ENST00000637892.1:n.1147A>T
ENST00000371068.9:c.943A>T ENSP00000360107.4:p.Ile315Phe
ENST00000480623.5:c.*1363A>T ENSP00000434498.1:n.*1363A>T
ENST00000538167.2:c.886A>T ENSP00000444521.1:p.Ile296Phe
NM_001172420.1:c.886A>T NP_001165891.1:p.Ile296Phe
NM_018100.3:c.943A>T NP_060570.2:p.Ile315Phe
NR_033327.1:n.2415A>T
NM_018100.4:c.943A>T MANE Select NP_060570.2:p.Ile315Phe
NM_001172420.2:c.886A>T NP_001165891.1:p.Ile296Phe
NR_033327.2:n.2269A>T