Canonical Allele Identifier: CA138992952

Gene: EFHC1

Linked Data

• dbSNP Id: rs908573760
• gnomAD v4: 6-52479763-A-C
• MyVariant Identifiers: chr6:g.52344561A>C (hg19) ; chr6:g.52479763A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479763A>C , CM000668.2:g.52479763A>C	GRCh38
NC_000006.11:g.52344561A>C , CM000668.1:g.52344561A>C	GRCh37
NC_000006.10:g.52452520A>C	NCBI36
NG_016760.1:g.64568A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1616A>C MANE Select	ENSP00000360107.4:p.Glu539Ala
ENST00000480623.6:c.1616A>C	ENSP00000434498.2:p.Glu539Ala
ENST00000635760.1:c.1292A>C	ENSP00000489765.1:p.Glu431Ala
ENST00000635812.1:c.*917A>C	ENSP00000490859.1:n.*917A>C
ENST00000635866.1:c.*1485A>C	ENSP00000489866.1:n.*1485A>C
ENST00000635911.1:n.3134A>C
ENST00000635984.1:c.1292A>C	ENSP00000489921.1:p.Glu431Ala
ENST00000635996.1:c.1616A>C	ENSP00000490256.1:p.Glu539Ala
ENST00000636107.1:c.1616A>C	ENSP00000489680.1:p.Glu539Ala
ENST00000636311.1:n.1510A>C
ENST00000636343.1:c.1282A>C
ENST00000636379.1:c.1328A>C	ENSP00000490622.1:p.Glu443Ala
ENST00000636398.1:c.1316A>C	ENSP00000489654.1:n.1316A>C
ENST00000636489.1:c.1559A>C	ENSP00000489998.1:p.Glu520Ala
ENST00000636616.1:n.1177A>C
ENST00000636702.1:c.1586A>C	ENSP00000489623.1:p.Glu529Ala
ENST00000636954.1:c.1559A>C	ENSP00000489966.1:p.Glu520Ala
ENST00000637089.1:c.1616A>C	ENSP00000489854.1:p.Glu539Ala
ENST00000637121.1:n.1418A>C
ENST00000637263.1:c.1616A>C	ENSP00000489700.1:p.Glu539Ala
ENST00000637340.1:n.3541A>C
ENST00000637353.1:c.1616A>C	ENSP00000490441.1:p.Glu539Ala
ENST00000637602.1:c.*1317A>C	ENSP00000490074.1:n.*1317A>C
ENST00000637849.1:n.1680A>C
ENST00000637892.1:n.1820A>C
ENST00000371068.9:c.1616A>C	ENSP00000360107.4:p.Glu539Ala
ENST00000480623.5:c.*2036A>C	ENSP00000434498.1:n.*2036A>C
ENST00000538167.2:c.1559A>C	ENSP00000444521.1:p.Glu520Ala
NM_001172420.1:c.1559A>C	NP_001165891.1:p.Glu520Ala
NM_018100.3:c.1616A>C	NP_060570.2:p.Glu539Ala
NR_033327.1:n.3088A>C
NM_018100.4:c.1616A>C MANE Select	NP_060570.2:p.Glu539Ala
NM_001172420.2:c.1559A>C	NP_001165891.1:p.Glu520Ala
NR_033327.2:n.2942A>C