Canonical Allele Identifier: CA364457227

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52343911T>G (hg19) ; chr6:g.52479113T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479113T>G , CM000668.2:g.52479113T>G	GRCh38
NC_000006.11:g.52343911T>G , CM000668.1:g.52343911T>G	GRCh37
NC_000006.10:g.52451870T>G	NCBI36
NG_016760.1:g.63918T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1355T>G MANE Select	ENSP00000360107.4:p.Phe452Cys
ENST00000480623.6:c.1355T>G	ENSP00000434498.2:p.Phe452Cys
ENST00000635760.1:c.1031T>G	ENSP00000489765.1:p.Phe344Cys
ENST00000635812.1:c.*656T>G	ENSP00000490859.1:n.*656T>G
ENST00000635866.1:c.*1224T>G	ENSP00000489866.1:n.*1224T>G
ENST00000635911.1:n.2873T>G
ENST00000635984.1:c.1031T>G	ENSP00000489921.1:p.Phe344Cys
ENST00000635996.1:c.1355T>G	ENSP00000490256.1:p.Phe452Cys
ENST00000636107.1:c.1355T>G	ENSP00000489680.1:p.Phe452Cys
ENST00000636311.1:n.1249T>G
ENST00000636343.1:c.1021T>G
ENST00000636379.1:c.1067T>G	ENSP00000490622.1:p.Phe356Cys
ENST00000636398.1:c.1055T>G	ENSP00000489654.1:n.1055T>G
ENST00000636489.1:c.1298T>G	ENSP00000489998.1:p.Phe433Cys
ENST00000636616.1:n.916T>G
ENST00000636702.1:c.1325T>G	ENSP00000489623.1:p.Phe442Cys
ENST00000636954.1:c.1298T>G	ENSP00000489966.1:p.Phe433Cys
ENST00000637089.1:c.1355T>G	ENSP00000489854.1:p.Phe452Cys
ENST00000637121.1:n.1157T>G
ENST00000637263.1:c.1355T>G	ENSP00000489700.1:p.Phe452Cys
ENST00000637340.1:n.3280T>G
ENST00000637353.1:c.1355T>G	ENSP00000490441.1:p.Phe452Cys
ENST00000637602.1:c.*1056T>G	ENSP00000490074.1:n.*1056T>G
ENST00000637849.1:n.1419T>G
ENST00000637874.1:c.300T>G	ENSP00000490348.1:n.300T>G
ENST00000637892.1:n.1559T>G
ENST00000371068.9:c.1355T>G	ENSP00000360107.4:p.Phe452Cys
ENST00000480623.5:c.*1775T>G	ENSP00000434498.1:n.*1775T>G
ENST00000538167.2:c.1298T>G	ENSP00000444521.1:p.Phe433Cys
NM_001172420.1:c.1298T>G	NP_001165891.1:p.Phe433Cys
NM_018100.3:c.1355T>G	NP_060570.2:p.Phe452Cys
NR_033327.1:n.2827T>G
NM_018100.4:c.1355T>G MANE Select	NP_060570.2:p.Phe452Cys
NM_001172420.2:c.1298T>G	NP_001165891.1:p.Phe433Cys
NR_033327.2:n.2681T>G