Canonical Allele Identifier: CA450422417

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52317551T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452753T>G , CM000668.2:g.52452753T>G	GRCh38
NC_000006.11:g.52317551T>G , CM000668.1:g.52317551T>G	GRCh37
NC_000006.10:g.52425510T>G	NCBI36
NG_016760.1:g.37558T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.639T>G MANE Select	ENSP00000360107.4:p.Thr213=
ENST00000480623.6:c.639T>G	ENSP00000434498.2:p.Thr213=
ENST00000635760.1:c.315T>G	ENSP00000489765.1:p.Thr105=
ENST00000635812.1:c.639T>G	ENSP00000490859.1:p.Thr213=
ENST00000635866.1:c.*508T>G	ENSP00000489866.1:n.*508T>G
ENST00000635911.1:n.900T>G
ENST00000635984.1:c.315T>G	ENSP00000489921.1:p.Thr105=
ENST00000635996.1:c.639T>G	ENSP00000490256.1:p.Thr213=
ENST00000636107.1:c.639T>G	ENSP00000489680.1:p.Thr213=
ENST00000636253.1:n.293T>G
ENST00000636311.1:n.533T>G
ENST00000636343.1:c.305T>G
ENST00000636379.1:c.351T>G	ENSP00000490622.1:p.Thr117=
ENST00000636398.1:c.306T>G	ENSP00000489654.1:p.Thr102=
ENST00000636489.1:c.582T>G	ENSP00000489998.1:p.Thr194=
ENST00000636702.1:c.609T>G	ENSP00000489623.1:p.Thr203=
ENST00000636954.1:c.582T>G	ENSP00000489966.1:p.Thr194=
ENST00000637089.1:c.639T>G	ENSP00000489854.1:p.Thr213=
ENST00000637200.1:c.*655T>G	ENSP00000490567.1:n.*655T>G
ENST00000637263.1:c.639T>G	ENSP00000489700.1:p.Thr213=
ENST00000637340.1:n.1307T>G
ENST00000637353.1:c.639T>G	ENSP00000490441.1:p.Thr213=
ENST00000637602.1:c.*340T>G	ENSP00000490074.1:n.*340T>G
ENST00000637849.1:n.703T>G
ENST00000637892.1:n.843T>G
ENST00000638075.1:c.21T>G	ENSP00000490711.1:p.Thr7=
ENST00000371068.9:c.639T>G	ENSP00000360107.4:p.Thr213=
ENST00000480623.5:c.639T>G	ENSP00000434498.1:p.Thr213=
ENST00000538167.2:c.582T>G	ENSP00000444521.1:p.Thr194=
NM_001172420.1:c.582T>G	NP_001165891.1:p.Thr194=
NM_018100.3:c.639T>G	NP_060570.2:p.Thr213=
NR_033327.1:n.854T>G
NM_018100.4:c.639T>G MANE Select	NP_060570.2:p.Thr213=
NM_001172420.2:c.582T>G	NP_001165891.1:p.Thr194=
NR_033327.2:n.708T>G