Canonical Allele Identifier: CA3855958

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 839615
• ClinVar RCV Id: RCV003768946
• dbSNP Id: rs144708524
• ExAC: 6:52329722 T / G
• gnomAD v3: 6-52464924-T-G
• gnomAD v4: 6-52464924-T-G
• MyVariant Identifiers: chr6:g.52329722T>G (hg19) ; chr6:g.52464924T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464924T>G , CM000668.2:g.52464924T>G	GRCh38
NC_000006.11:g.52329722T>G , CM000668.1:g.52329722T>G	GRCh37
NC_000006.10:g.52437681T>G	NCBI36
NG_016760.1:g.49729T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.946T>G MANE Select	ENSP00000360107.4:p.Ser316Ala
ENST00000480623.6:c.946T>G	ENSP00000434498.2:p.Ser316Ala
ENST00000635760.1:c.622T>G	ENSP00000489765.1:p.Ser208Ala
ENST00000635812.1:c.*247T>G	ENSP00000490859.1:n.*247T>G
ENST00000635866.1:c.*815T>G	ENSP00000489866.1:n.*815T>G
ENST00000635911.1:n.2464T>G
ENST00000635984.1:c.622T>G	ENSP00000489921.1:p.Ser208Ala
ENST00000635996.1:c.946T>G	ENSP00000490256.1:p.Ser316Ala
ENST00000636107.1:c.946T>G	ENSP00000489680.1:p.Ser316Ala
ENST00000636311.1:n.840T>G
ENST00000636343.1:c.612T>G
ENST00000636379.1:c.658T>G	ENSP00000490622.1:p.Ser220Ala
ENST00000636398.1:c.646T>G	ENSP00000489654.1:n.646T>G
ENST00000636489.1:c.889T>G	ENSP00000489998.1:p.Ser297Ala
ENST00000636616.1:n.562T>G
ENST00000636702.1:c.916T>G	ENSP00000489623.1:p.Ser306Ala
ENST00000636954.1:c.889T>G	ENSP00000489966.1:p.Ser297Ala
ENST00000637089.1:c.946T>G	ENSP00000489854.1:p.Ser316Ala
ENST00000637263.1:c.946T>G	ENSP00000489700.1:p.Ser316Ala
ENST00000637340.1:n.2871T>G
ENST00000637353.1:c.946T>G	ENSP00000490441.1:p.Ser316Ala
ENST00000637602.1:c.*647T>G	ENSP00000490074.1:n.*647T>G
ENST00000637849.1:n.1010T>G
ENST00000637874.1:c.83-4409T>G	ENSP00000490348.1:n.83-4409T>G
ENST00000637892.1:n.1150T>G
ENST00000371068.9:c.946T>G	ENSP00000360107.4:p.Ser316Ala
ENST00000480623.5:c.*1366T>G	ENSP00000434498.1:n.*1366T>G
ENST00000538167.2:c.889T>G	ENSP00000444521.1:p.Ser297Ala
NM_001172420.1:c.889T>G	NP_001165891.1:p.Ser297Ala
NM_018100.3:c.946T>G	NP_060570.2:p.Ser316Ala
NR_033327.1:n.2418T>G
NM_018100.4:c.946T>G MANE Select	NP_060570.2:p.Ser316Ala
NM_001172420.2:c.889T>G	NP_001165891.1:p.Ser297Ala
NR_033327.2:n.2272T>G