Canonical Allele Identifier: CA364456653

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52424088C>T , CM000668.2:g.52424088C>T	GRCh38
NC_000006.11:g.52288886C>T , CM000668.1:g.52288886C>T	GRCh37
NC_000006.10:g.52396845C>T	NCBI36
NG_016760.1:g.8893C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018100.4:c.206C>T MANE Select	NP_060570.2:p.Ala69Val
ENST00000371068.11:c.206C>T MANE Select	ENSP00000360107.4:p.Ala69Val
NM_001172420.1:c.149C>T	NP_001165891.1:p.Ala50Val
NM_001172420.2:c.149C>T	NP_001165891.1:p.Ala50Val
NM_018100.3:c.206C>T	NP_060570.2:p.Ala69Val
NR_033327.1:n.421C>T
NR_033327.2:n.275C>T
ENST00000371068.9:c.206C>T	ENSP00000360107.4:p.Ala69Val
ENST00000480623.5:c.206C>T	ENSP00000434498.1:p.Ala69Val
ENST00000480623.6:c.206C>T	ENSP00000434498.2:p.Ala69Val
ENST00000491749.1:n.255C>T
ENST00000491749.2:n.230C>T
ENST00000538167.2:c.149C>T	ENSP00000444521.1:p.Ala50Val
ENST00000635760.1:c.-119C>T	ENSP00000489765.1:n.-119C>T
ENST00000635812.1:c.206C>T	ENSP00000490859.1:p.Ala69Val
ENST00000635843.1:n.244C>T
ENST00000635866.1:c.206C>T	ENSP00000489866.1:p.Ala69Val
ENST00000635911.1:n.467C>T
ENST00000635963.1:c.206C>T	ENSP00000489852.1:p.Ala69Val
ENST00000635984.1:c.-119C>T	ENSP00000489921.1:n.-119C>T
ENST00000635996.1:c.206C>T	ENSP00000490256.1:p.Ala69Val
ENST00000636107.1:c.206C>T	ENSP00000489680.1:p.Ala69Val
ENST00000636311.1:n.237C>T
ENST00000636379.1:c.206C>T	ENSP00000490622.1:p.Ala69Val
ENST00000636489.1:c.149C>T	ENSP00000489998.1:p.Ala50Val
ENST00000636566.1:c.-119C>T	ENSP00000490602.1:n.-119C>T
ENST00000636702.1:c.176C>T	ENSP00000489623.1:p.Ala59Val
ENST00000636954.1:c.149C>T	ENSP00000489966.1:p.Ala50Val
ENST00000637089.1:c.206C>T	ENSP00000489854.1:p.Ala69Val
ENST00000637200.1:c.206C>T	ENSP00000490567.1:p.Ala69Val
ENST00000637263.1:c.206C>T	ENSP00000489700.1:p.Ala69Val
ENST00000637315.1:c.188C>T	ENSP00000489708.1:p.Ala63Val
ENST00000637340.1:n.874C>T
ENST00000637353.1:c.206C>T	ENSP00000490441.1:p.Ala69Val
ENST00000637602.1:c.199+7C>T	ENSP00000490074.1:n.199+7C>T
ENST00000637849.1:n.270C>T
ENST00000637892.1:n.410C>T
ENST00000638075.1:c.-334C>T	ENSP00000490711.1:n.-334C>T
ENST00000638140.1:n.320C>T