Canonical Allele Identifier: CA314404

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452775C>T , CM000668.2:g.52452775C>T	GRCh38
NC_000006.11:g.52317573C>T , CM000668.1:g.52317573C>T	GRCh37
NC_000006.10:g.52425532C>T	NCBI36
NG_016760.1:g.37580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.661C>T MANE Select	ENSP00000360107.4:p.Arg221Cys
ENST00000480623.6:c.661C>T	ENSP00000434498.2:p.Arg221Cys
ENST00000635760.1:c.337C>T	ENSP00000489765.1:p.Arg113Cys
ENST00000635812.1:c.661C>T	ENSP00000490859.1:p.Arg221Cys
ENST00000635866.1:c.*530C>T	ENSP00000489866.1:n.*530C>T
ENST00000635911.1:n.922C>T
ENST00000635984.1:c.337C>T	ENSP00000489921.1:p.Arg113Cys
ENST00000635996.1:c.661C>T	ENSP00000490256.1:p.Arg221Cys
ENST00000636107.1:c.661C>T	ENSP00000489680.1:p.Arg221Cys
ENST00000636253.1:n.315C>T
ENST00000636311.1:n.555C>T
ENST00000636343.1:c.327C>T
ENST00000636379.1:c.373C>T	ENSP00000490622.1:p.Arg125Cys
ENST00000636398.1:c.328C>T	ENSP00000489654.1:p.Arg110Cys
ENST00000636489.1:c.604C>T	ENSP00000489998.1:p.Arg202Cys
ENST00000636702.1:c.631C>T	ENSP00000489623.1:p.Arg211Cys
ENST00000636954.1:c.604C>T	ENSP00000489966.1:p.Arg202Cys
ENST00000637089.1:c.661C>T	ENSP00000489854.1:p.Arg221Cys
ENST00000637200.1:c.*677C>T	ENSP00000490567.1:n.*677C>T
ENST00000637263.1:c.661C>T	ENSP00000489700.1:p.Arg221Cys
ENST00000637340.1:n.1329C>T
ENST00000637353.1:c.661C>T	ENSP00000490441.1:p.Arg221Cys
ENST00000637602.1:c.*362C>T	ENSP00000490074.1:n.*362C>T
ENST00000637849.1:n.725C>T
ENST00000637892.1:n.865C>T
ENST00000371068.9:c.661C>T	ENSP00000360107.4:p.Arg221Cys
ENST00000480623.5:c.661C>T	ENSP00000434498.1:p.Arg221Cys
ENST00000538167.2:c.604C>T	ENSP00000444521.1:p.Arg202Cys
NM_001172420.1:c.604C>T	NP_001165891.1:p.Arg202Cys
NM_018100.3:c.661C>T	NP_060570.2:p.Arg221Cys
NR_033327.1:n.876C>T
NM_018100.4:c.661C>T MANE Select	NP_060570.2:p.Arg221Cys
NM_001172420.2:c.604C>T	NP_001165891.1:p.Arg202Cys
NR_033327.2:n.730C>T