Canonical Allele Identifier: CA450427461

Gene: EFHC1

Linked Data

• dbSNP Id: rs1422307683
• gnomAD v2: 6-52344511-G-A
• MyVariant Identifiers: chr6:g.52344511G>A (hg19) ; chr6:g.52479713G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479713G>A , CM000668.2:g.52479713G>A	GRCh38
NC_000006.11:g.52344511G>A , CM000668.1:g.52344511G>A	GRCh37
NC_000006.10:g.52452470G>A	NCBI36
NG_016760.1:g.64518G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1566G>A MANE Select	ENSP00000360107.4:p.Gln522=
ENST00000480623.6:c.1566G>A	ENSP00000434498.2:p.Gln522=
ENST00000635760.1:c.1242G>A	ENSP00000489765.1:p.Gln414=
ENST00000635812.1:c.*867G>A	ENSP00000490859.1:n.*867G>A
ENST00000635866.1:c.*1435G>A	ENSP00000489866.1:n.*1435G>A
ENST00000635911.1:n.3084G>A
ENST00000635984.1:c.1242G>A	ENSP00000489921.1:p.Gln414=
ENST00000635996.1:c.1566G>A	ENSP00000490256.1:p.Gln522=
ENST00000636107.1:c.1566G>A	ENSP00000489680.1:p.Gln522=
ENST00000636311.1:n.1460G>A
ENST00000636343.1:c.1232G>A
ENST00000636379.1:c.1278G>A	ENSP00000490622.1:p.Gln426=
ENST00000636398.1:c.1266G>A	ENSP00000489654.1:n.1266G>A
ENST00000636489.1:c.1509G>A	ENSP00000489998.1:p.Gln503=
ENST00000636616.1:n.1127G>A
ENST00000636702.1:c.1536G>A	ENSP00000489623.1:p.Gln512=
ENST00000636954.1:c.1509G>A	ENSP00000489966.1:p.Gln503=
ENST00000637089.1:c.1566G>A	ENSP00000489854.1:p.Gln522=
ENST00000637121.1:n.1368G>A
ENST00000637263.1:c.1566G>A	ENSP00000489700.1:p.Gln522=
ENST00000637340.1:n.3491G>A
ENST00000637353.1:c.1566G>A	ENSP00000490441.1:p.Gln522=
ENST00000637602.1:c.*1267G>A	ENSP00000490074.1:n.*1267G>A
ENST00000637849.1:n.1630G>A
ENST00000637892.1:n.1770G>A
ENST00000371068.9:c.1566G>A	ENSP00000360107.4:p.Gln522=
ENST00000480623.5:c.*1986G>A	ENSP00000434498.1:n.*1986G>A
ENST00000538167.2:c.1509G>A	ENSP00000444521.1:p.Gln503=
NM_001172420.1:c.1509G>A	NP_001165891.1:p.Gln503=
NM_018100.3:c.1566G>A	NP_060570.2:p.Gln522=
NR_033327.1:n.3038G>A
NM_018100.4:c.1566G>A MANE Select	NP_060570.2:p.Gln522=
NM_001172420.2:c.1509G>A	NP_001165891.1:p.Gln503=
NR_033327.2:n.2892G>A