Canonical Allele Identifier: CA364455568
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52464966A>T , CM000668.2:g.52464966A>T GRCh38
NC_000006.11:g.52329764A>T , CM000668.1:g.52329764A>T GRCh37
NC_000006.10:g.52437723A>T NCBI36
NG_016760.1:g.49771A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.988A>T MANE Select ENSP00000360107.4:p.Ile330Phe
ENST00000480623.6:c.988A>T ENSP00000434498.2:p.Ile330Phe
ENST00000635760.1:c.664A>T ENSP00000489765.1:p.Ile222Phe
ENST00000635812.1:c.*289A>T ENSP00000490859.1:n.*289A>T
ENST00000635866.1:c.*857A>T ENSP00000489866.1:n.*857A>T
ENST00000635911.1:n.2506A>T
ENST00000635984.1:c.664A>T ENSP00000489921.1:p.Ile222Phe
ENST00000635996.1:c.988A>T ENSP00000490256.1:p.Ile330Phe
ENST00000636107.1:c.988A>T ENSP00000489680.1:p.Ile330Phe
ENST00000636311.1:n.882A>T
ENST00000636343.1:c.654A>T
ENST00000636379.1:c.700A>T ENSP00000490622.1:p.Ile234Phe
ENST00000636398.1:c.688A>T ENSP00000489654.1:n.688A>T
ENST00000636489.1:c.931A>T ENSP00000489998.1:p.Ile311Phe
ENST00000636616.1:n.604A>T
ENST00000636702.1:c.958A>T ENSP00000489623.1:p.Ile320Phe
ENST00000636954.1:c.931A>T ENSP00000489966.1:p.Ile311Phe
ENST00000637089.1:c.988A>T ENSP00000489854.1:p.Ile330Phe
ENST00000637263.1:c.988A>T ENSP00000489700.1:p.Ile330Phe
ENST00000637340.1:n.2913A>T
ENST00000637353.1:c.988A>T ENSP00000490441.1:p.Ile330Phe
ENST00000637602.1:c.*689A>T ENSP00000490074.1:n.*689A>T
ENST00000637849.1:n.1052A>T
ENST00000637874.1:c.83-4367A>T ENSP00000490348.1:n.83-4367A>T
ENST00000637892.1:n.1192A>T
ENST00000371068.9:c.988A>T ENSP00000360107.4:p.Ile330Phe
ENST00000480623.5:c.*1408A>T ENSP00000434498.1:n.*1408A>T
ENST00000538167.2:c.931A>T ENSP00000444521.1:p.Ile311Phe
NM_001172420.1:c.931A>T NP_001165891.1:p.Ile311Phe
NM_018100.3:c.988A>T NP_060570.2:p.Ile330Phe
NR_033327.1:n.2460A>T
NM_018100.4:c.988A>T MANE Select NP_060570.2:p.Ile330Phe
NM_001172420.2:c.931A>T NP_001165891.1:p.Ile311Phe
NR_033327.2:n.2314A>T