Canonical Allele Identifier: CA364452370

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52317599T>G (hg19) ; chr6:g.52452801T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452801T>G , CM000668.2:g.52452801T>G	GRCh38
NC_000006.11:g.52317599T>G , CM000668.1:g.52317599T>G	GRCh37
NC_000006.10:g.52425558T>G	NCBI36
NG_016760.1:g.37606T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.687T>G MANE Select	ENSP00000360107.4:p.Phe229Leu
ENST00000480623.6:c.687T>G	ENSP00000434498.2:p.Phe229Leu
ENST00000635760.1:c.363T>G	ENSP00000489765.1:p.Phe121Leu
ENST00000635812.1:c.687T>G	ENSP00000490859.1:p.Phe229Leu
ENST00000635866.1:c.*556T>G	ENSP00000489866.1:n.*556T>G
ENST00000635911.1:n.948T>G
ENST00000635984.1:c.363T>G	ENSP00000489921.1:p.Phe121Leu
ENST00000635996.1:c.687T>G	ENSP00000490256.1:p.Phe229Leu
ENST00000636107.1:c.687T>G	ENSP00000489680.1:p.Phe229Leu
ENST00000636253.1:n.341T>G
ENST00000636311.1:n.581T>G
ENST00000636343.1:c.353T>G
ENST00000636379.1:c.399T>G	ENSP00000490622.1:p.Phe133Leu
ENST00000636398.1:c.354T>G	ENSP00000489654.1:p.Phe118Leu
ENST00000636489.1:c.630T>G	ENSP00000489998.1:p.Phe210Leu
ENST00000636702.1:c.657T>G	ENSP00000489623.1:p.Phe219Leu
ENST00000636954.1:c.630T>G	ENSP00000489966.1:p.Phe210Leu
ENST00000637089.1:c.687T>G	ENSP00000489854.1:p.Phe229Leu
ENST00000637200.1:c.*703T>G	ENSP00000490567.1:n.*703T>G
ENST00000637263.1:c.687T>G	ENSP00000489700.1:p.Phe229Leu
ENST00000637340.1:n.1355T>G
ENST00000637353.1:c.687T>G	ENSP00000490441.1:p.Phe229Leu
ENST00000637602.1:c.*388T>G	ENSP00000490074.1:n.*388T>G
ENST00000637849.1:n.751T>G
ENST00000637892.1:n.891T>G
ENST00000371068.9:c.687T>G	ENSP00000360107.4:p.Phe229Leu
ENST00000480623.5:c.687T>G	ENSP00000434498.1:p.Phe229Leu
ENST00000538167.2:c.630T>G	ENSP00000444521.1:p.Phe210Leu
NM_001172420.1:c.630T>G	NP_001165891.1:p.Phe210Leu
NM_018100.3:c.687T>G	NP_060570.2:p.Phe229Leu
NR_033327.1:n.902T>G
NM_018100.4:c.687T>G MANE Select	NP_060570.2:p.Phe229Leu
NM_001172420.2:c.630T>G	NP_001165891.1:p.Phe210Leu
NR_033327.2:n.756T>G