Canonical Allele Identifier: CA364458113
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52479708G>T , CM000668.2:g.52479708G>T GRCh38
NC_000006.11:g.52344506G>T , CM000668.1:g.52344506G>T GRCh37
NC_000006.10:g.52452465G>T NCBI36
NG_016760.1:g.64513G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1561G>T MANE Select ENSP00000360107.4:p.Ala521Ser
ENST00000480623.6:c.1561G>T ENSP00000434498.2:p.Ala521Ser
ENST00000635760.1:c.1237G>T ENSP00000489765.1:p.Ala413Ser
ENST00000635812.1:c.*862G>T ENSP00000490859.1:n.*862G>T
ENST00000635866.1:c.*1430G>T ENSP00000489866.1:n.*1430G>T
ENST00000635911.1:n.3079G>T
ENST00000635984.1:c.1237G>T ENSP00000489921.1:p.Ala413Ser
ENST00000635996.1:c.1561G>T ENSP00000490256.1:p.Ala521Ser
ENST00000636107.1:c.1561G>T ENSP00000489680.1:p.Ala521Ser
ENST00000636311.1:n.1455G>T
ENST00000636343.1:c.1227G>T
ENST00000636379.1:c.1273G>T ENSP00000490622.1:p.Ala425Ser
ENST00000636398.1:c.1261G>T ENSP00000489654.1:n.1261G>T
ENST00000636489.1:c.1504G>T ENSP00000489998.1:p.Ala502Ser
ENST00000636616.1:n.1122G>T
ENST00000636702.1:c.1531G>T ENSP00000489623.1:p.Ala511Ser
ENST00000636954.1:c.1504G>T ENSP00000489966.1:p.Ala502Ser
ENST00000637089.1:c.1561G>T ENSP00000489854.1:p.Ala521Ser
ENST00000637121.1:n.1363G>T
ENST00000637263.1:c.1561G>T ENSP00000489700.1:p.Ala521Ser
ENST00000637340.1:n.3486G>T
ENST00000637353.1:c.1561G>T ENSP00000490441.1:p.Ala521Ser
ENST00000637602.1:c.*1262G>T ENSP00000490074.1:n.*1262G>T
ENST00000637849.1:n.1625G>T
ENST00000637892.1:n.1765G>T
ENST00000371068.9:c.1561G>T ENSP00000360107.4:p.Ala521Ser
ENST00000480623.5:c.*1981G>T ENSP00000434498.1:n.*1981G>T
ENST00000538167.2:c.1504G>T ENSP00000444521.1:p.Ala502Ser
NM_001172420.1:c.1504G>T NP_001165891.1:p.Ala502Ser
NM_018100.3:c.1561G>T NP_060570.2:p.Ala521Ser
NR_033327.1:n.3033G>T
NM_018100.4:c.1561G>T MANE Select NP_060570.2:p.Ala521Ser
NM_001172420.2:c.1504G>T NP_001165891.1:p.Ala502Ser
NR_033327.2:n.2887G>T