Canonical Allele Identifier: CA364458157

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479729-C-T
• MyVariant Identifiers: chr6:g.52344527C>T (hg19) ; chr6:g.52479729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479729C>T , CM000668.2:g.52479729C>T	GRCh38
NC_000006.11:g.52344527C>T , CM000668.1:g.52344527C>T	GRCh37
NC_000006.10:g.52452486C>T	NCBI36
NG_016760.1:g.64534C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1582C>T MANE Select	ENSP00000360107.4:p.Leu528Phe
ENST00000480623.6:c.1582C>T	ENSP00000434498.2:p.Leu528Phe
ENST00000635760.1:c.1258C>T	ENSP00000489765.1:p.Leu420Phe
ENST00000635812.1:c.*883C>T	ENSP00000490859.1:n.*883C>T
ENST00000635866.1:c.*1451C>T	ENSP00000489866.1:n.*1451C>T
ENST00000635911.1:n.3100C>T
ENST00000635984.1:c.1258C>T	ENSP00000489921.1:p.Leu420Phe
ENST00000635996.1:c.1582C>T	ENSP00000490256.1:p.Leu528Phe
ENST00000636107.1:c.1582C>T	ENSP00000489680.1:p.Leu528Phe
ENST00000636311.1:n.1476C>T
ENST00000636343.1:c.1248C>T
ENST00000636379.1:c.1294C>T	ENSP00000490622.1:p.Leu432Phe
ENST00000636398.1:c.1282C>T	ENSP00000489654.1:n.1282C>T
ENST00000636489.1:c.1525C>T	ENSP00000489998.1:p.Leu509Phe
ENST00000636616.1:n.1143C>T
ENST00000636702.1:c.1552C>T	ENSP00000489623.1:p.Leu518Phe
ENST00000636954.1:c.1525C>T	ENSP00000489966.1:p.Leu509Phe
ENST00000637089.1:c.1582C>T	ENSP00000489854.1:p.Leu528Phe
ENST00000637121.1:n.1384C>T
ENST00000637263.1:c.1582C>T	ENSP00000489700.1:p.Leu528Phe
ENST00000637340.1:n.3507C>T
ENST00000637353.1:c.1582C>T	ENSP00000490441.1:p.Leu528Phe
ENST00000637602.1:c.*1283C>T	ENSP00000490074.1:n.*1283C>T
ENST00000637849.1:n.1646C>T
ENST00000637892.1:n.1786C>T
ENST00000371068.9:c.1582C>T	ENSP00000360107.4:p.Leu528Phe
ENST00000480623.5:c.*2002C>T	ENSP00000434498.1:n.*2002C>T
ENST00000538167.2:c.1525C>T	ENSP00000444521.1:p.Leu509Phe
NM_001172420.1:c.1525C>T	NP_001165891.1:p.Leu509Phe
NM_018100.3:c.1582C>T	NP_060570.2:p.Leu528Phe
NR_033327.1:n.3054C>T
NM_018100.4:c.1582C>T MANE Select	NP_060570.2:p.Leu528Phe
NM_001172420.2:c.1525C>T	NP_001165891.1:p.Leu509Phe
NR_033327.2:n.2908C>T