Canonical Allele Identifier: CA364458271
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52479787G>A , CM000668.2:g.52479787G>A GRCh38
NC_000006.11:g.52344585G>A , CM000668.1:g.52344585G>A GRCh37
NC_000006.10:g.52452544G>A NCBI36
NG_016760.1:g.64592G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1640G>A MANE Select ENSP00000360107.4:p.Ser547Asn
ENST00000480623.6:c.1640G>A ENSP00000434498.2:p.Arg547Lys
ENST00000635760.1:c.1316G>A ENSP00000489765.1:p.Ser439Asn
ENST00000635812.1:c.*941G>A ENSP00000490859.1:n.*941G>A
ENST00000635866.1:c.*1509G>A ENSP00000489866.1:n.*1509G>A
ENST00000635911.1:n.3158G>A
ENST00000635984.1:c.1316G>A ENSP00000489921.1:p.Arg439Lys
ENST00000635996.1:c.1640G>A ENSP00000490256.1:p.Ser547Asn
ENST00000636107.1:c.1640G>A ENSP00000489680.1:p.Arg547Lys
ENST00000636311.1:n.1534G>A
ENST00000636343.1:c.1306G>A
ENST00000636379.1:c.1352G>A ENSP00000490622.1:p.Ser451Asn
ENST00000636398.1:c.1340G>A ENSP00000489654.1:n.1340G>A
ENST00000636489.1:c.1583G>A ENSP00000489998.1:p.Ser528Asn
ENST00000636616.1:n.1201G>A
ENST00000636702.1:c.1610G>A ENSP00000489623.1:p.Ser537Asn
ENST00000636954.1:c.1583G>A ENSP00000489966.1:p.Ser528Asn
ENST00000637089.1:c.1640G>A ENSP00000489854.1:p.Ser547Asn
ENST00000637121.1:n.1442G>A
ENST00000637263.1:c.1640G>A ENSP00000489700.1:p.Arg547Lys
ENST00000637340.1:n.3565G>A
ENST00000637353.1:c.1640G>A ENSP00000490441.1:p.Ser547Asn
ENST00000637602.1:c.*1341G>A ENSP00000490074.1:n.*1341G>A
ENST00000637849.1:n.1704G>A
ENST00000637892.1:n.1844G>A
ENST00000371068.9:c.1640G>A ENSP00000360107.4:p.Ser547Asn
ENST00000480623.5:c.*2060G>A ENSP00000434498.1:n.*2060G>A
ENST00000538167.2:c.1583G>A ENSP00000444521.1:p.Ser528Asn
NM_001172420.1:c.1583G>A NP_001165891.1:p.Ser528Asn
NM_018100.3:c.1640G>A NP_060570.2:p.Ser547Asn
NR_033327.1:n.3112G>A
NM_018100.4:c.1640G>A MANE Select NP_060570.2:p.Ser547Asn
NM_001172420.2:c.1583G>A NP_001165891.1:p.Ser528Asn
NR_033327.2:n.2966G>A