Canonical Allele Identifier: CA364452073

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52452742-G-C
• MyVariant Identifiers: chr6:g.52317540G>C (hg19) ; chr6:g.52452742G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452742G>C , CM000668.2:g.52452742G>C	GRCh38
NC_000006.11:g.52317540G>C , CM000668.1:g.52317540G>C	GRCh37
NC_000006.10:g.52425499G>C	NCBI36
NG_016760.1:g.37547G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.628G>C MANE Select	ENSP00000360107.4:p.Asp210His
ENST00000480623.6:c.628G>C	ENSP00000434498.2:p.Asp210His
ENST00000635760.1:c.304G>C	ENSP00000489765.1:p.Asp102His
ENST00000635812.1:c.628G>C	ENSP00000490859.1:p.Asp210His
ENST00000635866.1:c.*497G>C	ENSP00000489866.1:n.*497G>C
ENST00000635911.1:n.889G>C
ENST00000635984.1:c.304G>C	ENSP00000489921.1:p.Asp102His
ENST00000635996.1:c.628G>C	ENSP00000490256.1:p.Asp210His
ENST00000636107.1:c.628G>C	ENSP00000489680.1:p.Asp210His
ENST00000636253.1:n.282G>C
ENST00000636311.1:n.522G>C
ENST00000636343.1:c.294G>C
ENST00000636379.1:c.340G>C	ENSP00000490622.1:p.Asp114His
ENST00000636398.1:c.295G>C	ENSP00000489654.1:p.Asp99His
ENST00000636489.1:c.571G>C	ENSP00000489998.1:p.Asp191His
ENST00000636702.1:c.598G>C	ENSP00000489623.1:p.Asp200His
ENST00000636954.1:c.571G>C	ENSP00000489966.1:p.Asp191His
ENST00000637089.1:c.628G>C	ENSP00000489854.1:p.Asp210His
ENST00000637200.1:c.*644G>C	ENSP00000490567.1:n.*644G>C
ENST00000637263.1:c.628G>C	ENSP00000489700.1:p.Asp210His
ENST00000637340.1:n.1296G>C
ENST00000637353.1:c.628G>C	ENSP00000490441.1:p.Asp210His
ENST00000637602.1:c.*329G>C	ENSP00000490074.1:n.*329G>C
ENST00000637849.1:n.692G>C
ENST00000637892.1:n.832G>C
ENST00000638075.1:c.10G>C	ENSP00000490711.1:p.Asp4His
ENST00000371068.9:c.628G>C	ENSP00000360107.4:p.Asp210His
ENST00000480623.5:c.628G>C	ENSP00000434498.1:p.Asp210His
ENST00000538167.2:c.571G>C	ENSP00000444521.1:p.Asp191His
NM_001172420.1:c.571G>C	NP_001165891.1:p.Asp191His
NM_018100.3:c.628G>C	NP_060570.2:p.Asp210His
NR_033327.1:n.843G>C
NM_018100.4:c.628G>C MANE Select	NP_060570.2:p.Asp210His
NM_001172420.2:c.571G>C	NP_001165891.1:p.Asp191His
NR_033327.2:n.697G>C