Canonical Allele Identifier: CA364458120

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52344510A>T (hg19) ; chr6:g.52479712A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479712A>T , CM000668.2:g.52479712A>T	GRCh38
NC_000006.11:g.52344510A>T , CM000668.1:g.52344510A>T	GRCh37
NC_000006.10:g.52452469A>T	NCBI36
NG_016760.1:g.64517A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1565A>T MANE Select	ENSP00000360107.4:p.Gln522Leu
ENST00000480623.6:c.1565A>T	ENSP00000434498.2:p.Gln522Leu
ENST00000635760.1:c.1241A>T	ENSP00000489765.1:p.Gln414Leu
ENST00000635812.1:c.*866A>T	ENSP00000490859.1:n.*866A>T
ENST00000635866.1:c.*1434A>T	ENSP00000489866.1:n.*1434A>T
ENST00000635911.1:n.3083A>T
ENST00000635984.1:c.1241A>T	ENSP00000489921.1:p.Gln414Leu
ENST00000635996.1:c.1565A>T	ENSP00000490256.1:p.Gln522Leu
ENST00000636107.1:c.1565A>T	ENSP00000489680.1:p.Gln522Leu
ENST00000636311.1:n.1459A>T
ENST00000636343.1:c.1231A>T
ENST00000636379.1:c.1277A>T	ENSP00000490622.1:p.Gln426Leu
ENST00000636398.1:c.1265A>T	ENSP00000489654.1:n.1265A>T
ENST00000636489.1:c.1508A>T	ENSP00000489998.1:p.Gln503Leu
ENST00000636616.1:n.1126A>T
ENST00000636702.1:c.1535A>T	ENSP00000489623.1:p.Gln512Leu
ENST00000636954.1:c.1508A>T	ENSP00000489966.1:p.Gln503Leu
ENST00000637089.1:c.1565A>T	ENSP00000489854.1:p.Gln522Leu
ENST00000637121.1:n.1367A>T
ENST00000637263.1:c.1565A>T	ENSP00000489700.1:p.Gln522Leu
ENST00000637340.1:n.3490A>T
ENST00000637353.1:c.1565A>T	ENSP00000490441.1:p.Gln522Leu
ENST00000637602.1:c.*1266A>T	ENSP00000490074.1:n.*1266A>T
ENST00000637849.1:n.1629A>T
ENST00000637892.1:n.1769A>T
ENST00000371068.9:c.1565A>T	ENSP00000360107.4:p.Gln522Leu
ENST00000480623.5:c.*1985A>T	ENSP00000434498.1:n.*1985A>T
ENST00000538167.2:c.1508A>T	ENSP00000444521.1:p.Gln503Leu
NM_001172420.1:c.1508A>T	NP_001165891.1:p.Gln503Leu
NM_018100.3:c.1565A>T	NP_060570.2:p.Gln522Leu
NR_033327.1:n.3037A>T
NM_018100.4:c.1565A>T MANE Select	NP_060570.2:p.Gln522Leu
NM_001172420.2:c.1508A>T	NP_001165891.1:p.Gln503Leu
NR_033327.2:n.2891A>T