Canonical Allele Identifier: CA314466

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 205416
• ClinVar RCV Id: RCV000187374 ; RCV003927737 ; RCV003765188
• dbSNP Id: rs142458862
• ExAC: 6:52357072 T / G
• gnomAD v2: 6-52357072-T-G
• gnomAD v3: 6-52492274-T-G
• gnomAD v4: 6-52492274-T-G
• COSMIC: COSM5979219
• MyVariant Identifiers: chr6:g.52357072T>G (hg19) ; chr6:g.52492274T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52492274T>G , CM000668.2:g.52492274T>G	GRCh38
NC_000006.11:g.52357072T>G , CM000668.1:g.52357072T>G	GRCh37
NC_000006.10:g.52465031T>G	NCBI36
NG_016760.1:g.77079T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1856T>G MANE Select	ENSP00000360107.4:p.Ile619Ser
ENST00000480623.6:c.*412T>G	ENSP00000434498.2:n.*412T>G
ENST00000481466.2:n.241T>G
ENST00000635760.1:c.1532T>G	ENSP00000489765.1:p.Ile511Ser
ENST00000635866.1:c.*1725T>G	ENSP00000489866.1:n.*1725T>G
ENST00000635911.1:n.3374T>G
ENST00000636311.1:n.1750T>G
ENST00000636343.1:c.1517+1924T>G
ENST00000636379.1:c.1568T>G	ENSP00000490622.1:p.Ile523Ser
ENST00000636398.1:c.1556T>G	ENSP00000489654.1:n.1556T>G
ENST00000636489.1:c.1799T>G	ENSP00000489998.1:p.Ile600Ser
ENST00000636616.1:n.1417T>G
ENST00000636702.1:c.1826T>G	ENSP00000489623.1:p.Ile609Ser
ENST00000636954.1:c.1799T>G	ENSP00000489966.1:p.Ile600Ser
ENST00000637089.1:c.1851+1924T>G	ENSP00000489854.1:n.1851+1924T>G
ENST00000637121.1:n.1658T>G
ENST00000637340.1:n.3781T>G
ENST00000637353.1:c.1851+1924T>G	ENSP00000490441.1:n.1851+1924T>G
ENST00000637602.1:c.*1552+1924T>G	ENSP00000490074.1:n.*1552+1924T>G
ENST00000371068.9:c.1856T>G	ENSP00000360107.4:p.Ile619Ser
ENST00000480623.5:c.*2276T>G	ENSP00000434498.1:n.*2276T>G
ENST00000481466.1:n.335T>G
ENST00000538167.2:c.1799T>G	ENSP00000444521.1:p.Ile600Ser
NM_001172420.1:c.1799T>G	NP_001165891.1:p.Ile600Ser
NM_018100.3:c.1856T>G	NP_060570.2:p.Ile619Ser
NR_033327.1:n.3328T>G
NM_018100.4:c.1856T>G MANE Select	NP_060570.2:p.Ile619Ser
NM_001172420.2:c.1799T>G	NP_001165891.1:p.Ile600Ser
NR_033327.2:n.3182T>G