Canonical Allele Identifier: CA364458099
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52479702A>C , CM000668.2:g.52479702A>C GRCh38
NC_000006.11:g.52344500A>C , CM000668.1:g.52344500A>C GRCh37
NC_000006.10:g.52452459A>C NCBI36
NG_016760.1:g.64507A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1555A>C MANE Select ENSP00000360107.4:p.Asn519His
ENST00000480623.6:c.1555A>C ENSP00000434498.2:p.Asn519His
ENST00000635760.1:c.1231A>C ENSP00000489765.1:p.Asn411His
ENST00000635812.1:c.*856A>C ENSP00000490859.1:n.*856A>C
ENST00000635866.1:c.*1424A>C ENSP00000489866.1:n.*1424A>C
ENST00000635911.1:n.3073A>C
ENST00000635984.1:c.1231A>C ENSP00000489921.1:p.Asn411His
ENST00000635996.1:c.1555A>C ENSP00000490256.1:p.Asn519His
ENST00000636107.1:c.1555A>C ENSP00000489680.1:p.Asn519His
ENST00000636311.1:n.1449A>C
ENST00000636343.1:c.1221A>C
ENST00000636379.1:c.1267A>C ENSP00000490622.1:p.Asn423His
ENST00000636398.1:c.1255A>C ENSP00000489654.1:n.1255A>C
ENST00000636489.1:c.1498A>C ENSP00000489998.1:p.Asn500His
ENST00000636616.1:n.1116A>C
ENST00000636702.1:c.1525A>C ENSP00000489623.1:p.Asn509His
ENST00000636954.1:c.1498A>C ENSP00000489966.1:p.Asn500His
ENST00000637089.1:c.1555A>C ENSP00000489854.1:p.Asn519His
ENST00000637121.1:n.1357A>C
ENST00000637263.1:c.1555A>C ENSP00000489700.1:p.Asn519His
ENST00000637340.1:n.3480A>C
ENST00000637353.1:c.1555A>C ENSP00000490441.1:p.Asn519His
ENST00000637602.1:c.*1256A>C ENSP00000490074.1:n.*1256A>C
ENST00000637849.1:n.1619A>C
ENST00000637892.1:n.1759A>C
ENST00000371068.9:c.1555A>C ENSP00000360107.4:p.Asn519His
ENST00000480623.5:c.*1975A>C ENSP00000434498.1:n.*1975A>C
ENST00000538167.2:c.1498A>C ENSP00000444521.1:p.Asn500His
NM_001172420.1:c.1498A>C NP_001165891.1:p.Asn500His
NM_018100.3:c.1555A>C NP_060570.2:p.Asn519His
NR_033327.1:n.3027A>C
NM_018100.4:c.1555A>C MANE Select NP_060570.2:p.Asn519His
NM_001172420.2:c.1498A>C NP_001165891.1:p.Asn500His
NR_033327.2:n.2881A>C