Canonical Allele Identifier: CA364457303

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479131A>G , CM000668.2:g.52479131A>G	GRCh38
NC_000006.11:g.52343929A>G , CM000668.1:g.52343929A>G	GRCh37
NC_000006.10:g.52451888A>G	NCBI36
NG_016760.1:g.63936A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018100.4:c.1373A>G MANE Select	NP_060570.2:p.Asn458Ser
ENST00000371068.11:c.1373A>G MANE Select	ENSP00000360107.4:p.Asn458Ser
NM_001172420.1:c.1316A>G	NP_001165891.1:p.Asn439Ser
NM_001172420.2:c.1316A>G	NP_001165891.1:p.Asn439Ser
NM_018100.3:c.1373A>G	NP_060570.2:p.Asn458Ser
NR_033327.1:n.2845A>G
NR_033327.2:n.2699A>G
ENST00000371068.9:c.1373A>G	ENSP00000360107.4:p.Asn458Ser
ENST00000480623.5:c.*1793A>G	ENSP00000434498.1:n.*1793A>G
ENST00000480623.6:c.1373A>G	ENSP00000434498.2:p.Asn458Ser
ENST00000538167.2:c.1316A>G	ENSP00000444521.1:p.Asn439Ser
ENST00000635760.1:c.1049A>G	ENSP00000489765.1:p.Asn350Ser
ENST00000635812.1:c.*674A>G	ENSP00000490859.1:n.*674A>G
ENST00000635866.1:c.*1242A>G	ENSP00000489866.1:n.*1242A>G
ENST00000635911.1:n.2891A>G
ENST00000635984.1:c.1049A>G	ENSP00000489921.1:p.Asn350Ser
ENST00000635996.1:c.1373A>G	ENSP00000490256.1:p.Asn458Ser
ENST00000636107.1:c.1373A>G	ENSP00000489680.1:p.Asn458Ser
ENST00000636311.1:n.1267A>G
ENST00000636343.1:c.1039A>G
ENST00000636379.1:c.1085A>G	ENSP00000490622.1:p.Asn362Ser
ENST00000636398.1:c.1073A>G	ENSP00000489654.1:n.1073A>G
ENST00000636489.1:c.1316A>G	ENSP00000489998.1:p.Asn439Ser
ENST00000636616.1:n.934A>G
ENST00000636702.1:c.1343A>G	ENSP00000489623.1:p.Asn448Ser
ENST00000636954.1:c.1316A>G	ENSP00000489966.1:p.Asn439Ser
ENST00000637089.1:c.1373A>G	ENSP00000489854.1:p.Asn458Ser
ENST00000637121.1:n.1175A>G
ENST00000637263.1:c.1373A>G	ENSP00000489700.1:p.Asn458Ser
ENST00000637340.1:n.3298A>G
ENST00000637353.1:c.1373A>G	ENSP00000490441.1:p.Asn458Ser
ENST00000637602.1:c.*1074A>G	ENSP00000490074.1:n.*1074A>G
ENST00000637849.1:n.1437A>G
ENST00000637874.1:c.318A>G	ENSP00000490348.1:n.318A>G
ENST00000637892.1:n.1577A>G