Canonical Allele Identifier: CA450427473

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479731-C-A
• MyVariant Identifiers: chr6:g.52344529C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479731C>A , CM000668.2:g.52479731C>A	GRCh38
NC_000006.11:g.52344529C>A , CM000668.1:g.52344529C>A	GRCh37
NC_000006.10:g.52452488C>A	NCBI36
NG_016760.1:g.64536C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1584C>A MANE Select	ENSP00000360107.4:p.Leu528=
ENST00000480623.6:c.1584C>A	ENSP00000434498.2:p.Leu528=
ENST00000635760.1:c.1260C>A	ENSP00000489765.1:p.Leu420=
ENST00000635812.1:c.*885C>A	ENSP00000490859.1:n.*885C>A
ENST00000635866.1:c.*1453C>A	ENSP00000489866.1:n.*1453C>A
ENST00000635911.1:n.3102C>A
ENST00000635984.1:c.1260C>A	ENSP00000489921.1:p.Leu420=
ENST00000635996.1:c.1584C>A	ENSP00000490256.1:p.Leu528=
ENST00000636107.1:c.1584C>A	ENSP00000489680.1:p.Leu528=
ENST00000636311.1:n.1478C>A
ENST00000636343.1:c.1250C>A
ENST00000636379.1:c.1296C>A	ENSP00000490622.1:p.Leu432=
ENST00000636398.1:c.1284C>A	ENSP00000489654.1:n.1284C>A
ENST00000636489.1:c.1527C>A	ENSP00000489998.1:p.Leu509=
ENST00000636616.1:n.1145C>A
ENST00000636702.1:c.1554C>A	ENSP00000489623.1:p.Leu518=
ENST00000636954.1:c.1527C>A	ENSP00000489966.1:p.Leu509=
ENST00000637089.1:c.1584C>A	ENSP00000489854.1:p.Leu528=
ENST00000637121.1:n.1386C>A
ENST00000637263.1:c.1584C>A	ENSP00000489700.1:p.Leu528=
ENST00000637340.1:n.3509C>A
ENST00000637353.1:c.1584C>A	ENSP00000490441.1:p.Leu528=
ENST00000637602.1:c.*1285C>A	ENSP00000490074.1:n.*1285C>A
ENST00000637849.1:n.1648C>A
ENST00000637892.1:n.1788C>A
ENST00000371068.9:c.1584C>A	ENSP00000360107.4:p.Leu528=
ENST00000480623.5:c.*2004C>A	ENSP00000434498.1:n.*2004C>A
ENST00000538167.2:c.1527C>A	ENSP00000444521.1:p.Leu509=
NM_001172420.1:c.1527C>A	NP_001165891.1:p.Leu509=
NM_018100.3:c.1584C>A	NP_060570.2:p.Leu528=
NR_033327.1:n.3056C>A
NM_018100.4:c.1584C>A MANE Select	NP_060570.2:p.Leu528=
NM_001172420.2:c.1527C>A	NP_001165891.1:p.Leu509=
NR_033327.2:n.2910C>A