Canonical Allele Identifier: CA364458231

Gene: EFHC1

Linked Data

• dbSNP Id: rs769799699
• gnomAD v2: 6-52344564-C-T
• gnomAD v4: 6-52479766-C-T
• MyVariant Identifiers: chr6:g.52344564C>T (hg19) ; chr6:g.52479766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479766C>T , CM000668.2:g.52479766C>T	GRCh38
NC_000006.11:g.52344564C>T , CM000668.1:g.52344564C>T	GRCh37
NC_000006.10:g.52452523C>T	NCBI36
NG_016760.1:g.64571C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1619C>T MANE Select	ENSP00000360107.4:p.Ala540Val
ENST00000480623.6:c.1619C>T	ENSP00000434498.2:p.Ala540Val
ENST00000635760.1:c.1295C>T	ENSP00000489765.1:p.Ala432Val
ENST00000635812.1:c.*920C>T	ENSP00000490859.1:n.*920C>T
ENST00000635866.1:c.*1488C>T	ENSP00000489866.1:n.*1488C>T
ENST00000635911.1:n.3137C>T
ENST00000635984.1:c.1295C>T	ENSP00000489921.1:p.Ala432Val
ENST00000635996.1:c.1619C>T	ENSP00000490256.1:p.Ala540Val
ENST00000636107.1:c.1619C>T	ENSP00000489680.1:p.Ala540Val
ENST00000636311.1:n.1513C>T
ENST00000636343.1:c.1285C>T
ENST00000636379.1:c.1331C>T	ENSP00000490622.1:p.Ala444Val
ENST00000636398.1:c.1319C>T	ENSP00000489654.1:n.1319C>T
ENST00000636489.1:c.1562C>T	ENSP00000489998.1:p.Ala521Val
ENST00000636616.1:n.1180C>T
ENST00000636702.1:c.1589C>T	ENSP00000489623.1:p.Ala530Val
ENST00000636954.1:c.1562C>T	ENSP00000489966.1:p.Ala521Val
ENST00000637089.1:c.1619C>T	ENSP00000489854.1:p.Ala540Val
ENST00000637121.1:n.1421C>T
ENST00000637263.1:c.1619C>T	ENSP00000489700.1:p.Ala540Val
ENST00000637340.1:n.3544C>T
ENST00000637353.1:c.1619C>T	ENSP00000490441.1:p.Ala540Val
ENST00000637602.1:c.*1320C>T	ENSP00000490074.1:n.*1320C>T
ENST00000637849.1:n.1683C>T
ENST00000637892.1:n.1823C>T
ENST00000371068.9:c.1619C>T	ENSP00000360107.4:p.Ala540Val
ENST00000480623.5:c.*2039C>T	ENSP00000434498.1:n.*2039C>T
ENST00000538167.2:c.1562C>T	ENSP00000444521.1:p.Ala521Val
NM_001172420.1:c.1562C>T	NP_001165891.1:p.Ala521Val
NM_018100.3:c.1619C>T	NP_060570.2:p.Ala540Val
NR_033327.1:n.3091C>T
NM_018100.4:c.1619C>T MANE Select	NP_060570.2:p.Ala540Val
NM_001172420.2:c.1562C>T	NP_001165891.1:p.Ala521Val
NR_033327.2:n.2945C>T