Canonical Allele Identifier: CA138977777

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52454160C>T , CM000668.2:g.52454160C>T	GRCh38
NC_000006.11:g.52318958C>T , CM000668.1:g.52318958C>T	GRCh37
NC_000006.10:g.52426917C>T	NCBI36
NG_016760.1:g.38965C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018100.4:c.789C>T MANE Select	NP_060570.2:p.Ile263=
ENST00000371068.11:c.789C>T MANE Select	ENSP00000360107.4:p.Ile263=
NM_001172420.1:c.732C>T	NP_001165891.1:p.Ile244=
NM_001172420.2:c.732C>T	NP_001165891.1:p.Ile244=
NM_018100.3:c.789C>T	NP_060570.2:p.Ile263=
NR_033327.1:n.2261C>T
NR_033327.2:n.2115C>T
ENST00000371068.9:c.789C>T	ENSP00000360107.4:p.Ile263=
ENST00000480623.5:c.*1209C>T	ENSP00000434498.1:n.*1209C>T
ENST00000480623.6:c.789C>T	ENSP00000434498.2:p.Ile263=
ENST00000538167.2:c.732C>T	ENSP00000444521.1:p.Ile244=
ENST00000635760.1:c.465C>T	ENSP00000489765.1:p.Ile155=
ENST00000635812.1:c.*90C>T	ENSP00000490859.1:n.*90C>T
ENST00000635866.1:c.*658C>T	ENSP00000489866.1:n.*658C>T
ENST00000635911.1:n.2307C>T
ENST00000635984.1:c.465C>T	ENSP00000489921.1:p.Ile155=
ENST00000635996.1:c.789C>T	ENSP00000490256.1:p.Ile263=
ENST00000636107.1:c.789C>T	ENSP00000489680.1:p.Ile263=
ENST00000636311.1:n.683C>T
ENST00000636343.1:c.455C>T
ENST00000636379.1:c.501C>T	ENSP00000490622.1:p.Ile167=
ENST00000636398.1:c.489C>T	ENSP00000489654.1:n.489C>T
ENST00000636489.1:c.732C>T	ENSP00000489998.1:p.Ile244=
ENST00000636616.1:n.405C>T
ENST00000636702.1:c.759C>T	ENSP00000489623.1:p.Ile253=
ENST00000636954.1:c.732C>T	ENSP00000489966.1:p.Ile244=
ENST00000637089.1:c.789C>T	ENSP00000489854.1:p.Ile263=
ENST00000637263.1:c.789C>T	ENSP00000489700.1:p.Ile263=
ENST00000637340.1:n.2714C>T
ENST00000637353.1:c.789C>T	ENSP00000490441.1:p.Ile263=
ENST00000637602.1:c.*490C>T	ENSP00000490074.1:n.*490C>T
ENST00000637849.1:n.853C>T
ENST00000637892.1:n.993C>T