Canonical Allele Identifier: CA364458167
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52479735T>G , CM000668.2:g.52479735T>G GRCh38
NC_000006.11:g.52344533T>G , CM000668.1:g.52344533T>G GRCh37
NC_000006.10:g.52452492T>G NCBI36
NG_016760.1:g.64540T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1588T>G MANE Select ENSP00000360107.4:p.Ser530Ala
ENST00000480623.6:c.1588T>G ENSP00000434498.2:p.Ser530Ala
ENST00000635760.1:c.1264T>G ENSP00000489765.1:p.Ser422Ala
ENST00000635812.1:c.*889T>G ENSP00000490859.1:n.*889T>G
ENST00000635866.1:c.*1457T>G ENSP00000489866.1:n.*1457T>G
ENST00000635911.1:n.3106T>G
ENST00000635984.1:c.1264T>G ENSP00000489921.1:p.Ser422Ala
ENST00000635996.1:c.1588T>G ENSP00000490256.1:p.Ser530Ala
ENST00000636107.1:c.1588T>G ENSP00000489680.1:p.Ser530Ala
ENST00000636311.1:n.1482T>G
ENST00000636343.1:c.1254T>G
ENST00000636379.1:c.1300T>G ENSP00000490622.1:p.Ser434Ala
ENST00000636398.1:c.1288T>G ENSP00000489654.1:n.1288T>G
ENST00000636489.1:c.1531T>G ENSP00000489998.1:p.Ser511Ala
ENST00000636616.1:n.1149T>G
ENST00000636702.1:c.1558T>G ENSP00000489623.1:p.Ser520Ala
ENST00000636954.1:c.1531T>G ENSP00000489966.1:p.Ser511Ala
ENST00000637089.1:c.1588T>G ENSP00000489854.1:p.Ser530Ala
ENST00000637121.1:n.1390T>G
ENST00000637263.1:c.1588T>G ENSP00000489700.1:p.Ser530Ala
ENST00000637340.1:n.3513T>G
ENST00000637353.1:c.1588T>G ENSP00000490441.1:p.Ser530Ala
ENST00000637602.1:c.*1289T>G ENSP00000490074.1:n.*1289T>G
ENST00000637849.1:n.1652T>G
ENST00000637892.1:n.1792T>G
ENST00000371068.9:c.1588T>G ENSP00000360107.4:p.Ser530Ala
ENST00000480623.5:c.*2008T>G ENSP00000434498.1:n.*2008T>G
ENST00000538167.2:c.1531T>G ENSP00000444521.1:p.Ser511Ala
NM_001172420.1:c.1531T>G NP_001165891.1:p.Ser511Ala
NM_018100.3:c.1588T>G NP_060570.2:p.Ser530Ala
NR_033327.1:n.3060T>G
NM_018100.4:c.1588T>G MANE Select NP_060570.2:p.Ser530Ala
NM_001172420.2:c.1531T>G NP_001165891.1:p.Ser511Ala
NR_033327.2:n.2914T>G