Canonical Allele Identifier: CA364455707

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52465029-A-G
• MyVariant Identifiers: chr6:g.52329827A>G (hg19) ; chr6:g.52465029A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52465029A>G , CM000668.2:g.52465029A>G	GRCh38
NC_000006.11:g.52329827A>G , CM000668.1:g.52329827A>G	GRCh37
NC_000006.10:g.52437786A>G	NCBI36
NG_016760.1:g.49834A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1051A>G MANE Select	ENSP00000360107.4:p.Thr351Ala
ENST00000480623.6:c.1051A>G	ENSP00000434498.2:p.Thr351Ala
ENST00000635760.1:c.727A>G	ENSP00000489765.1:p.Thr243Ala
ENST00000635812.1:c.*352A>G	ENSP00000490859.1:n.*352A>G
ENST00000635866.1:c.*920A>G	ENSP00000489866.1:n.*920A>G
ENST00000635911.1:n.2569A>G
ENST00000635984.1:c.727A>G	ENSP00000489921.1:p.Thr243Ala
ENST00000635996.1:c.1051A>G	ENSP00000490256.1:p.Thr351Ala
ENST00000636107.1:c.1051A>G	ENSP00000489680.1:p.Thr351Ala
ENST00000636311.1:n.945A>G
ENST00000636343.1:c.717A>G
ENST00000636379.1:c.763A>G	ENSP00000490622.1:p.Thr255Ala
ENST00000636398.1:c.751A>G	ENSP00000489654.1:n.751A>G
ENST00000636489.1:c.994A>G	ENSP00000489998.1:p.Thr332Ala
ENST00000636616.1:n.667A>G
ENST00000636702.1:c.1021A>G	ENSP00000489623.1:p.Thr341Ala
ENST00000636954.1:c.994A>G	ENSP00000489966.1:p.Thr332Ala
ENST00000637089.1:c.1051A>G	ENSP00000489854.1:p.Thr351Ala
ENST00000637263.1:c.1051A>G	ENSP00000489700.1:p.Thr351Ala
ENST00000637340.1:n.2976A>G
ENST00000637353.1:c.1051A>G	ENSP00000490441.1:p.Thr351Ala
ENST00000637602.1:c.*752A>G	ENSP00000490074.1:n.*752A>G
ENST00000637849.1:n.1115A>G
ENST00000637874.1:c.83-4304A>G	ENSP00000490348.1:n.83-4304A>G
ENST00000637892.1:n.1255A>G
ENST00000371068.9:c.1051A>G	ENSP00000360107.4:p.Thr351Ala
ENST00000480623.5:c.*1471A>G	ENSP00000434498.1:n.*1471A>G
ENST00000538167.2:c.994A>G	ENSP00000444521.1:p.Thr332Ala
NM_001172420.1:c.994A>G	NP_001165891.1:p.Thr332Ala
NM_018100.3:c.1051A>G	NP_060570.2:p.Thr351Ala
NR_033327.1:n.2523A>G
NM_018100.4:c.1051A>G MANE Select	NP_060570.2:p.Thr351Ala
NM_001172420.2:c.994A>G	NP_001165891.1:p.Thr332Ala
NR_033327.2:n.2377A>G