Canonical Allele Identifier: CA450423443

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52329721C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464923C>T , CM000668.2:g.52464923C>T	GRCh38
NC_000006.11:g.52329721C>T , CM000668.1:g.52329721C>T	GRCh37
NC_000006.10:g.52437680C>T	NCBI36
NG_016760.1:g.49728C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.945C>T MANE Select	ENSP00000360107.4:p.Ile315=
ENST00000480623.6:c.945C>T	ENSP00000434498.2:p.Ile315=
ENST00000635760.1:c.621C>T	ENSP00000489765.1:p.Ile207=
ENST00000635812.1:c.*246C>T	ENSP00000490859.1:n.*246C>T
ENST00000635866.1:c.*814C>T	ENSP00000489866.1:n.*814C>T
ENST00000635911.1:n.2463C>T
ENST00000635984.1:c.621C>T	ENSP00000489921.1:p.Ile207=
ENST00000635996.1:c.945C>T	ENSP00000490256.1:p.Ile315=
ENST00000636107.1:c.945C>T	ENSP00000489680.1:p.Ile315=
ENST00000636311.1:n.839C>T
ENST00000636343.1:c.611C>T
ENST00000636379.1:c.657C>T	ENSP00000490622.1:p.Ile219=
ENST00000636398.1:c.645C>T	ENSP00000489654.1:n.645C>T
ENST00000636489.1:c.888C>T	ENSP00000489998.1:p.Ile296=
ENST00000636616.1:n.561C>T
ENST00000636702.1:c.915C>T	ENSP00000489623.1:p.Ile305=
ENST00000636954.1:c.888C>T	ENSP00000489966.1:p.Ile296=
ENST00000637089.1:c.945C>T	ENSP00000489854.1:p.Ile315=
ENST00000637263.1:c.945C>T	ENSP00000489700.1:p.Ile315=
ENST00000637340.1:n.2870C>T
ENST00000637353.1:c.945C>T	ENSP00000490441.1:p.Ile315=
ENST00000637602.1:c.*646C>T	ENSP00000490074.1:n.*646C>T
ENST00000637849.1:n.1009C>T
ENST00000637874.1:c.83-4410C>T	ENSP00000490348.1:n.83-4410C>T
ENST00000637892.1:n.1149C>T
ENST00000371068.9:c.945C>T	ENSP00000360107.4:p.Ile315=
ENST00000480623.5:c.*1365C>T	ENSP00000434498.1:n.*1365C>T
ENST00000538167.2:c.888C>T	ENSP00000444521.1:p.Ile296=
NM_001172420.1:c.888C>T	NP_001165891.1:p.Ile296=
NM_018100.3:c.945C>T	NP_060570.2:p.Ile315=
NR_033327.1:n.2417C>T
NM_018100.4:c.945C>T MANE Select	NP_060570.2:p.Ile315=
NM_001172420.2:c.888C>T	NP_001165891.1:p.Ile296=
NR_033327.2:n.2271C>T