Canonical Allele Identifier: CA3856132

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 654115
• ClinVar RCV Id: RCV003768514
• dbSNP Id: rs779990464
• ExAC: 6:52344551 C / G
• gnomAD v2: 6-52344551-C-G
• gnomAD v3: 6-52479753-C-G
• gnomAD v4: 6-52479753-C-G
• MyVariant Identifiers: chr6:g.52344551C>G (hg19) ; chr6:g.52479753C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479753C>G , CM000668.2:g.52479753C>G	GRCh38
NC_000006.11:g.52344551C>G , CM000668.1:g.52344551C>G	GRCh37
NC_000006.10:g.52452510C>G	NCBI36
NG_016760.1:g.64558C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1606C>G MANE Select	ENSP00000360107.4:p.Arg536Gly
ENST00000480623.6:c.1606C>G	ENSP00000434498.2:p.Arg536Gly
ENST00000635760.1:c.1282C>G	ENSP00000489765.1:p.Arg428Gly
ENST00000635812.1:c.*907C>G	ENSP00000490859.1:n.*907C>G
ENST00000635866.1:c.*1475C>G	ENSP00000489866.1:n.*1475C>G
ENST00000635911.1:n.3124C>G
ENST00000635984.1:c.1282C>G	ENSP00000489921.1:p.Arg428Gly
ENST00000635996.1:c.1606C>G	ENSP00000490256.1:p.Arg536Gly
ENST00000636107.1:c.1606C>G	ENSP00000489680.1:p.Arg536Gly
ENST00000636311.1:n.1500C>G
ENST00000636343.1:c.1272C>G
ENST00000636379.1:c.1318C>G	ENSP00000490622.1:p.Arg440Gly
ENST00000636398.1:c.1306C>G	ENSP00000489654.1:n.1306C>G
ENST00000636489.1:c.1549C>G	ENSP00000489998.1:p.Arg517Gly
ENST00000636616.1:n.1167C>G
ENST00000636702.1:c.1576C>G	ENSP00000489623.1:p.Arg526Gly
ENST00000636954.1:c.1549C>G	ENSP00000489966.1:p.Arg517Gly
ENST00000637089.1:c.1606C>G	ENSP00000489854.1:p.Arg536Gly
ENST00000637121.1:n.1408C>G
ENST00000637263.1:c.1606C>G	ENSP00000489700.1:p.Arg536Gly
ENST00000637340.1:n.3531C>G
ENST00000637353.1:c.1606C>G	ENSP00000490441.1:p.Arg536Gly
ENST00000637602.1:c.*1307C>G	ENSP00000490074.1:n.*1307C>G
ENST00000637849.1:n.1670C>G
ENST00000637892.1:n.1810C>G
ENST00000371068.9:c.1606C>G	ENSP00000360107.4:p.Arg536Gly
ENST00000480623.5:c.*2026C>G	ENSP00000434498.1:n.*2026C>G
ENST00000538167.2:c.1549C>G	ENSP00000444521.1:p.Arg517Gly
NM_001172420.1:c.1549C>G	NP_001165891.1:p.Arg517Gly
NM_018100.3:c.1606C>G	NP_060570.2:p.Arg536Gly
NR_033327.1:n.3078C>G
NM_018100.4:c.1606C>G MANE Select	NP_060570.2:p.Arg536Gly
NM_001172420.2:c.1549C>G	NP_001165891.1:p.Arg517Gly
NR_033327.2:n.2932C>G