Canonical Allele Identifier: CA364458940

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52355109A>T (hg19) ; chr6:g.52490311A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52490311A>T , CM000668.2:g.52490311A>T	GRCh38
NC_000006.11:g.52355109A>T , CM000668.1:g.52355109A>T	GRCh37
NC_000006.10:g.52463068A>T	NCBI36
NG_016760.1:g.75116A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1812A>T MANE Select	ENSP00000360107.4:p.Glu604Asp
ENST00000480623.6:c.*368A>T	ENSP00000434498.2:n.*368A>T
ENST00000481466.2:n.197A>T
ENST00000635760.1:c.1488A>T	ENSP00000489765.1:p.Glu496Asp
ENST00000635866.1:c.*1681A>T	ENSP00000489866.1:n.*1681A>T
ENST00000635911.1:n.3330A>T
ENST00000635996.1:c.1812A>T	ENSP00000490256.1:p.Glu604Asp
ENST00000636311.1:n.1706A>T
ENST00000636343.1:c.1478A>T
ENST00000636379.1:c.1524A>T	ENSP00000490622.1:p.Glu508Asp
ENST00000636398.1:c.1512A>T	ENSP00000489654.1:n.1512A>T
ENST00000636489.1:c.1755A>T	ENSP00000489998.1:p.Glu585Asp
ENST00000636616.1:n.1373A>T
ENST00000636702.1:c.1782A>T	ENSP00000489623.1:p.Glu594Asp
ENST00000636954.1:c.1755A>T	ENSP00000489966.1:p.Glu585Asp
ENST00000637089.1:c.1812A>T	ENSP00000489854.1:p.Glu604Asp
ENST00000637121.1:n.1614A>T
ENST00000637340.1:n.3737A>T
ENST00000637353.1:c.1812A>T	ENSP00000490441.1:p.Glu604Asp
ENST00000637602.1:c.*1513A>T	ENSP00000490074.1:n.*1513A>T
ENST00000371068.9:c.1812A>T	ENSP00000360107.4:p.Glu604Asp
ENST00000480623.5:c.*2232A>T	ENSP00000434498.1:n.*2232A>T
ENST00000481466.1:n.291A>T
ENST00000538167.2:c.1755A>T	ENSP00000444521.1:p.Glu585Asp
NM_001172420.1:c.1755A>T	NP_001165891.1:p.Glu585Asp
NM_018100.3:c.1812A>T	NP_060570.2:p.Glu604Asp
NR_033327.1:n.3284A>T
NM_018100.4:c.1812A>T MANE Select	NP_060570.2:p.Glu604Asp
NM_001172420.2:c.1755A>T	NP_001165891.1:p.Glu585Asp
NR_033327.2:n.3138A>T