Canonical Allele Identifier: CA364458128
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52479715A>T , CM000668.2:g.52479715A>T GRCh38
NC_000006.11:g.52344513A>T , CM000668.1:g.52344513A>T GRCh37
NC_000006.10:g.52452472A>T NCBI36
NG_016760.1:g.64520A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1568A>T MANE Select ENSP00000360107.4:p.Tyr523Phe
ENST00000480623.6:c.1568A>T ENSP00000434498.2:p.Tyr523Phe
ENST00000635760.1:c.1244A>T ENSP00000489765.1:p.Tyr415Phe
ENST00000635812.1:c.*869A>T ENSP00000490859.1:n.*869A>T
ENST00000635866.1:c.*1437A>T ENSP00000489866.1:n.*1437A>T
ENST00000635911.1:n.3086A>T
ENST00000635984.1:c.1244A>T ENSP00000489921.1:p.Tyr415Phe
ENST00000635996.1:c.1568A>T ENSP00000490256.1:p.Tyr523Phe
ENST00000636107.1:c.1568A>T ENSP00000489680.1:p.Tyr523Phe
ENST00000636311.1:n.1462A>T
ENST00000636343.1:c.1234A>T
ENST00000636379.1:c.1280A>T ENSP00000490622.1:p.Tyr427Phe
ENST00000636398.1:c.1268A>T ENSP00000489654.1:n.1268A>T
ENST00000636489.1:c.1511A>T ENSP00000489998.1:p.Tyr504Phe
ENST00000636616.1:n.1129A>T
ENST00000636702.1:c.1538A>T ENSP00000489623.1:p.Tyr513Phe
ENST00000636954.1:c.1511A>T ENSP00000489966.1:p.Tyr504Phe
ENST00000637089.1:c.1568A>T ENSP00000489854.1:p.Tyr523Phe
ENST00000637121.1:n.1370A>T
ENST00000637263.1:c.1568A>T ENSP00000489700.1:p.Tyr523Phe
ENST00000637340.1:n.3493A>T
ENST00000637353.1:c.1568A>T ENSP00000490441.1:p.Tyr523Phe
ENST00000637602.1:c.*1269A>T ENSP00000490074.1:n.*1269A>T
ENST00000637849.1:n.1632A>T
ENST00000637892.1:n.1772A>T
ENST00000371068.9:c.1568A>T ENSP00000360107.4:p.Tyr523Phe
ENST00000480623.5:c.*1988A>T ENSP00000434498.1:n.*1988A>T
ENST00000538167.2:c.1511A>T ENSP00000444521.1:p.Tyr504Phe
NM_001172420.1:c.1511A>T NP_001165891.1:p.Tyr504Phe
NM_018100.3:c.1568A>T NP_060570.2:p.Tyr523Phe
NR_033327.1:n.3040A>T
NM_018100.4:c.1568A>T MANE Select NP_060570.2:p.Tyr523Phe
NM_001172420.2:c.1511A>T NP_001165891.1:p.Tyr504Phe
NR_033327.2:n.2894A>T