Canonical Allele Identifier: CA364458179

Gene: EFHC1

Linked Data

• dbSNP Id: rs745458555
• gnomAD v2: 6-52344539-C-G
• gnomAD v4: 6-52479741-C-G
• MyVariant Identifiers: chr6:g.52344539C>G (hg19) ; chr6:g.52479741C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479741C>G , CM000668.2:g.52479741C>G	GRCh38
NC_000006.11:g.52344539C>G , CM000668.1:g.52344539C>G	GRCh37
NC_000006.10:g.52452498C>G	NCBI36
NG_016760.1:g.64546C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1594C>G MANE Select	ENSP00000360107.4:p.Gln532Glu
ENST00000480623.6:c.1594C>G	ENSP00000434498.2:p.Gln532Glu
ENST00000635760.1:c.1270C>G	ENSP00000489765.1:p.Gln424Glu
ENST00000635812.1:c.*895C>G	ENSP00000490859.1:n.*895C>G
ENST00000635866.1:c.*1463C>G	ENSP00000489866.1:n.*1463C>G
ENST00000635911.1:n.3112C>G
ENST00000635984.1:c.1270C>G	ENSP00000489921.1:p.Gln424Glu
ENST00000635996.1:c.1594C>G	ENSP00000490256.1:p.Gln532Glu
ENST00000636107.1:c.1594C>G	ENSP00000489680.1:p.Gln532Glu
ENST00000636311.1:n.1488C>G
ENST00000636343.1:c.1260C>G
ENST00000636379.1:c.1306C>G	ENSP00000490622.1:p.Gln436Glu
ENST00000636398.1:c.1294C>G	ENSP00000489654.1:n.1294C>G
ENST00000636489.1:c.1537C>G	ENSP00000489998.1:p.Gln513Glu
ENST00000636616.1:n.1155C>G
ENST00000636702.1:c.1564C>G	ENSP00000489623.1:p.Gln522Glu
ENST00000636954.1:c.1537C>G	ENSP00000489966.1:p.Gln513Glu
ENST00000637089.1:c.1594C>G	ENSP00000489854.1:p.Gln532Glu
ENST00000637121.1:n.1396C>G
ENST00000637263.1:c.1594C>G	ENSP00000489700.1:p.Gln532Glu
ENST00000637340.1:n.3519C>G
ENST00000637353.1:c.1594C>G	ENSP00000490441.1:p.Gln532Glu
ENST00000637602.1:c.*1295C>G	ENSP00000490074.1:n.*1295C>G
ENST00000637849.1:n.1658C>G
ENST00000637892.1:n.1798C>G
ENST00000371068.9:c.1594C>G	ENSP00000360107.4:p.Gln532Glu
ENST00000480623.5:c.*2014C>G	ENSP00000434498.1:n.*2014C>G
ENST00000538167.2:c.1537C>G	ENSP00000444521.1:p.Gln513Glu
NM_001172420.1:c.1537C>G	NP_001165891.1:p.Gln513Glu
NM_018100.3:c.1594C>G	NP_060570.2:p.Gln532Glu
NR_033327.1:n.3066C>G
NM_018100.4:c.1594C>G MANE Select	NP_060570.2:p.Gln532Glu
NM_001172420.2:c.1537C>G	NP_001165891.1:p.Gln513Glu
NR_033327.2:n.2920C>G