Canonical Allele Identifier: CA1628833167

Gene: EFHC1

Linked Data

• dbSNP Id: rs1765629071
• gnomAD v4: 6-52479681-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479685del , CM000668.2:g.52479685del	GRCh38
NC_000006.11:g.52344483del , CM000668.1:g.52344483del	GRCh37
NC_000006.10:g.52452442del	NCBI36
NG_016760.1:g.64490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1538del MANE Select	ENSP00000360107.4:p.Leu513Ter
ENST00000480623.6:c.1538del	ENSP00000434498.2:p.Leu513Ter
ENST00000635760.1:c.1214del	ENSP00000489765.1:p.Leu405Ter
ENST00000635812.1:c.*839del	ENSP00000490859.1:n.*839del
ENST00000635866.1:c.*1407del	ENSP00000489866.1:n.*1407del
ENST00000635911.1:n.3056del
ENST00000635984.1:c.1214del	ENSP00000489921.1:p.Leu405Ter
ENST00000635996.1:c.1538del	ENSP00000490256.1:p.Leu513Ter
ENST00000636107.1:c.1538del	ENSP00000489680.1:p.Leu513Ter
ENST00000636311.1:n.1432del
ENST00000636343.1:c.1204del
ENST00000636379.1:c.1250del	ENSP00000490622.1:p.Leu417Ter
ENST00000636398.1:c.1238del	ENSP00000489654.1:n.1238del
ENST00000636489.1:c.1481del	ENSP00000489998.1:p.Leu494Ter
ENST00000636616.1:n.1099del
ENST00000636702.1:c.1508del	ENSP00000489623.1:p.Leu503Ter
ENST00000636954.1:c.1481del	ENSP00000489966.1:p.Leu494Ter
ENST00000637089.1:c.1538del	ENSP00000489854.1:p.Leu513Ter
ENST00000637121.1:n.1340del
ENST00000637263.1:c.1538del	ENSP00000489700.1:p.Leu513Ter
ENST00000637340.1:n.3463del
ENST00000637353.1:c.1538del	ENSP00000490441.1:p.Leu513Ter
ENST00000637602.1:c.*1239del	ENSP00000490074.1:n.*1239del
ENST00000637849.1:n.1602del
ENST00000637874.1:c.483del	ENSP00000490348.1:n.483del
ENST00000637892.1:n.1742del
ENST00000371068.9:c.1538del	ENSP00000360107.4:p.Leu513Ter
ENST00000480623.5:c.*1958del	ENSP00000434498.1:n.*1958del
ENST00000538167.2:c.1481del	ENSP00000444521.1:p.Leu494Ter
NM_001172420.1:c.1481del	NP_001165891.1:p.Leu494Ter
NM_018100.3:c.1538del	NP_060570.2:p.Leu513Ter
NR_033327.1:n.3010del
NM_018100.4:c.1538del MANE Select	NP_060570.2:p.Leu513Ter
NM_001172420.2:c.1481del	NP_001165891.1:p.Leu494Ter
NR_033327.2:n.2864del