Canonical Allele Identifier: CA3855701

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52424145C>T , CM000668.2:g.52424145C>T	GRCh38
NC_000006.11:g.52288943C>T , CM000668.1:g.52288943C>T	GRCh37
NC_000006.10:g.52396902C>T	NCBI36
NG_016760.1:g.8950C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018100.4:c.263C>T MANE Select	NP_060570.2:p.Ala88Val
ENST00000371068.11:c.263C>T MANE Select	ENSP00000360107.4:p.Ala88Val
NM_001172420.1:c.206C>T	NP_001165891.1:p.Ala69Val
NM_001172420.2:c.206C>T	NP_001165891.1:p.Ala69Val
NM_018100.3:c.263C>T	NP_060570.2:p.Ala88Val
NR_033327.1:n.478C>T
NR_033327.2:n.332C>T
ENST00000371068.9:c.263C>T	ENSP00000360107.4:p.Ala88Val
ENST00000480623.5:c.263C>T	ENSP00000434498.1:p.Ala88Val
ENST00000480623.6:c.263C>T	ENSP00000434498.2:p.Ala88Val
ENST00000491749.1:n.312C>T
ENST00000491749.2:n.287C>T
ENST00000538167.2:c.206C>T	ENSP00000444521.1:p.Ala69Val
ENST00000635760.1:c.-62C>T	ENSP00000489765.1:n.-62C>T
ENST00000635812.1:c.263C>T	ENSP00000490859.1:p.Ala88Val
ENST00000635843.1:n.301C>T
ENST00000635866.1:c.263C>T	ENSP00000489866.1:p.Ala88Val
ENST00000635911.1:n.524C>T
ENST00000635963.1:c.263C>T	ENSP00000489852.1:p.Ala88Val
ENST00000635984.1:c.-62C>T	ENSP00000489921.1:n.-62C>T
ENST00000635996.1:c.263C>T	ENSP00000490256.1:p.Ala88Val
ENST00000636107.1:c.263C>T	ENSP00000489680.1:p.Ala88Val
ENST00000636311.1:n.294C>T
ENST00000636379.1:c.263C>T	ENSP00000490622.1:p.Ala88Val
ENST00000636489.1:c.206C>T	ENSP00000489998.1:p.Ala69Val
ENST00000636566.1:c.-62C>T	ENSP00000490602.1:n.-62C>T
ENST00000636702.1:c.233C>T	ENSP00000489623.1:p.Ala78Val
ENST00000636954.1:c.206C>T	ENSP00000489966.1:p.Ala69Val
ENST00000637089.1:c.263C>T	ENSP00000489854.1:p.Ala88Val
ENST00000637200.1:c.263C>T	ENSP00000490567.1:p.Ala88Val
ENST00000637263.1:c.263C>T	ENSP00000489700.1:p.Ala88Val
ENST00000637315.1:c.245C>T	ENSP00000489708.1:p.Ala82Val
ENST00000637340.1:n.931C>T
ENST00000637353.1:c.263C>T	ENSP00000490441.1:p.Ala88Val
ENST00000637602.1:c.199+64C>T	ENSP00000490074.1:n.199+64C>T
ENST00000637849.1:n.327C>T
ENST00000637892.1:n.467C>T
ENST00000638075.1:c.-277C>T	ENSP00000490711.1:n.-277C>T
ENST00000638140.1:n.377C>T