Canonical Allele Identifier: CA364458153
Gene: EFHC1 HGNC NCBI

Linked Data

gnomAD v4: 6-52479726-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52479726G>T , CM000668.2:g.52479726G>T GRCh38
NC_000006.11:g.52344524G>T , CM000668.1:g.52344524G>T GRCh37
NC_000006.10:g.52452483G>T NCBI36
NG_016760.1:g.64531G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1579G>T MANE Select ENSP00000360107.4:p.Ala527Ser
ENST00000480623.6:c.1579G>T ENSP00000434498.2:p.Ala527Ser
ENST00000635760.1:c.1255G>T ENSP00000489765.1:p.Ala419Ser
ENST00000635812.1:c.*880G>T ENSP00000490859.1:n.*880G>T
ENST00000635866.1:c.*1448G>T ENSP00000489866.1:n.*1448G>T
ENST00000635911.1:n.3097G>T
ENST00000635984.1:c.1255G>T ENSP00000489921.1:p.Ala419Ser
ENST00000635996.1:c.1579G>T ENSP00000490256.1:p.Ala527Ser
ENST00000636107.1:c.1579G>T ENSP00000489680.1:p.Ala527Ser
ENST00000636311.1:n.1473G>T
ENST00000636343.1:c.1245G>T
ENST00000636379.1:c.1291G>T ENSP00000490622.1:p.Ala431Ser
ENST00000636398.1:c.1279G>T ENSP00000489654.1:n.1279G>T
ENST00000636489.1:c.1522G>T ENSP00000489998.1:p.Ala508Ser
ENST00000636616.1:n.1140G>T
ENST00000636702.1:c.1549G>T ENSP00000489623.1:p.Ala517Ser
ENST00000636954.1:c.1522G>T ENSP00000489966.1:p.Ala508Ser
ENST00000637089.1:c.1579G>T ENSP00000489854.1:p.Ala527Ser
ENST00000637121.1:n.1381G>T
ENST00000637263.1:c.1579G>T ENSP00000489700.1:p.Ala527Ser
ENST00000637340.1:n.3504G>T
ENST00000637353.1:c.1579G>T ENSP00000490441.1:p.Ala527Ser
ENST00000637602.1:c.*1280G>T ENSP00000490074.1:n.*1280G>T
ENST00000637849.1:n.1643G>T
ENST00000637892.1:n.1783G>T
ENST00000371068.9:c.1579G>T ENSP00000360107.4:p.Ala527Ser
ENST00000480623.5:c.*1999G>T ENSP00000434498.1:n.*1999G>T
ENST00000538167.2:c.1522G>T ENSP00000444521.1:p.Ala508Ser
NM_001172420.1:c.1522G>T NP_001165891.1:p.Ala508Ser
NM_018100.3:c.1579G>T NP_060570.2:p.Ala527Ser
NR_033327.1:n.3051G>T
NM_018100.4:c.1579G>T MANE Select NP_060570.2:p.Ala527Ser
NM_001172420.2:c.1522G>T NP_001165891.1:p.Ala508Ser
NR_033327.2:n.2905G>T