Canonical Allele Identifier: CA364458187

Gene: EFHC1

Linked Data

• dbSNP Id: rs1276328391
• gnomAD v2: 6-52344542-A-T
• gnomAD v4: 6-52479744-A-T
• MyVariant Identifiers: chr6:g.52344542A>T (hg19) ; chr6:g.52479744A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479744A>T , CM000668.2:g.52479744A>T	GRCh38
NC_000006.11:g.52344542A>T , CM000668.1:g.52344542A>T	GRCh37
NC_000006.10:g.52452501A>T	NCBI36
NG_016760.1:g.64549A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1597A>T MANE Select	ENSP00000360107.4:p.Asn533Tyr
ENST00000480623.6:c.1597A>T	ENSP00000434498.2:p.Asn533Tyr
ENST00000635760.1:c.1273A>T	ENSP00000489765.1:p.Asn425Tyr
ENST00000635812.1:c.*898A>T	ENSP00000490859.1:n.*898A>T
ENST00000635866.1:c.*1466A>T	ENSP00000489866.1:n.*1466A>T
ENST00000635911.1:n.3115A>T
ENST00000635984.1:c.1273A>T	ENSP00000489921.1:p.Asn425Tyr
ENST00000635996.1:c.1597A>T	ENSP00000490256.1:p.Asn533Tyr
ENST00000636107.1:c.1597A>T	ENSP00000489680.1:p.Asn533Tyr
ENST00000636311.1:n.1491A>T
ENST00000636343.1:c.1263A>T
ENST00000636379.1:c.1309A>T	ENSP00000490622.1:p.Asn437Tyr
ENST00000636398.1:c.1297A>T	ENSP00000489654.1:n.1297A>T
ENST00000636489.1:c.1540A>T	ENSP00000489998.1:p.Asn514Tyr
ENST00000636616.1:n.1158A>T
ENST00000636702.1:c.1567A>T	ENSP00000489623.1:p.Asn523Tyr
ENST00000636954.1:c.1540A>T	ENSP00000489966.1:p.Asn514Tyr
ENST00000637089.1:c.1597A>T	ENSP00000489854.1:p.Asn533Tyr
ENST00000637121.1:n.1399A>T
ENST00000637263.1:c.1597A>T	ENSP00000489700.1:p.Asn533Tyr
ENST00000637340.1:n.3522A>T
ENST00000637353.1:c.1597A>T	ENSP00000490441.1:p.Asn533Tyr
ENST00000637602.1:c.*1298A>T	ENSP00000490074.1:n.*1298A>T
ENST00000637849.1:n.1661A>T
ENST00000637892.1:n.1801A>T
ENST00000371068.9:c.1597A>T	ENSP00000360107.4:p.Asn533Tyr
ENST00000480623.5:c.*2017A>T	ENSP00000434498.1:n.*2017A>T
ENST00000538167.2:c.1540A>T	ENSP00000444521.1:p.Asn514Tyr
NM_001172420.1:c.1540A>T	NP_001165891.1:p.Asn514Tyr
NM_018100.3:c.1597A>T	NP_060570.2:p.Asn533Tyr
NR_033327.1:n.3069A>T
NM_018100.4:c.1597A>T MANE Select	NP_060570.2:p.Asn533Tyr
NM_001172420.2:c.1540A>T	NP_001165891.1:p.Asn514Tyr
NR_033327.2:n.2923A>T