Canonical Allele Identifier: CA364456935

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52343861C>A (hg19) ; chr6:g.52479063C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479063C>A , CM000668.2:g.52479063C>A	GRCh38
NC_000006.11:g.52343861C>A , CM000668.1:g.52343861C>A	GRCh37
NC_000006.10:g.52451820C>A	NCBI36
NG_016760.1:g.63868C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1305C>A MANE Select	ENSP00000360107.4:p.Asp435Glu
ENST00000480623.6:c.1305C>A	ENSP00000434498.2:p.Asp435Glu
ENST00000635760.1:c.981C>A	ENSP00000489765.1:p.Asp327Glu
ENST00000635812.1:c.*606C>A	ENSP00000490859.1:n.*606C>A
ENST00000635866.1:c.*1174C>A	ENSP00000489866.1:n.*1174C>A
ENST00000635911.1:n.2823C>A
ENST00000635984.1:c.981C>A	ENSP00000489921.1:p.Asp327Glu
ENST00000635996.1:c.1305C>A	ENSP00000490256.1:p.Asp435Glu
ENST00000636107.1:c.1305C>A	ENSP00000489680.1:p.Asp435Glu
ENST00000636311.1:n.1199C>A
ENST00000636343.1:c.971C>A
ENST00000636379.1:c.1017C>A	ENSP00000490622.1:p.Asp339Glu
ENST00000636398.1:c.1005C>A	ENSP00000489654.1:n.1005C>A
ENST00000636489.1:c.1248C>A	ENSP00000489998.1:p.Asp416Glu
ENST00000636616.1:n.895-29C>A
ENST00000636702.1:c.1275C>A	ENSP00000489623.1:p.Asp425Glu
ENST00000636954.1:c.1248C>A	ENSP00000489966.1:p.Asp416Glu
ENST00000637089.1:c.1305C>A	ENSP00000489854.1:p.Asp435Glu
ENST00000637121.1:n.1107C>A
ENST00000637263.1:c.1305C>A	ENSP00000489700.1:p.Asp435Glu
ENST00000637340.1:n.3230C>A
ENST00000637353.1:c.1305C>A	ENSP00000490441.1:p.Asp435Glu
ENST00000637602.1:c.*1006C>A	ENSP00000490074.1:n.*1006C>A
ENST00000637849.1:n.1369C>A
ENST00000637874.1:c.250C>A	ENSP00000490348.1:n.250C>A
ENST00000637892.1:n.1509C>A
ENST00000371068.9:c.1305C>A	ENSP00000360107.4:p.Asp435Glu
ENST00000480623.5:c.*1725C>A	ENSP00000434498.1:n.*1725C>A
ENST00000538167.2:c.1248C>A	ENSP00000444521.1:p.Asp416Glu
NM_001172420.1:c.1248C>A	NP_001165891.1:p.Asp416Glu
NM_018100.3:c.1305C>A	NP_060570.2:p.Asp435Glu
NR_033327.1:n.2777C>A
NM_018100.4:c.1305C>A MANE Select	NP_060570.2:p.Asp435Glu
NM_001172420.2:c.1248C>A	NP_001165891.1:p.Asp416Glu
NR_033327.2:n.2631C>A