Canonical Allele Identifier: CA3856121

Gene: EFHC1

Linked Data

• dbSNP Id: rs527539103
• ExAC: 6:52344501 A / G
• gnomAD v4: 6-52479703-A-G
• MyVariant Identifiers: chr6:g.52344501A>G (hg19) ; chr6:g.52479703A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479703A>G , CM000668.2:g.52479703A>G	GRCh38
NC_000006.11:g.52344501A>G , CM000668.1:g.52344501A>G	GRCh37
NC_000006.10:g.52452460A>G	NCBI36
NG_016760.1:g.64508A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1556A>G MANE Select	ENSP00000360107.4:p.Asn519Ser
ENST00000480623.6:c.1556A>G	ENSP00000434498.2:p.Asn519Ser
ENST00000635760.1:c.1232A>G	ENSP00000489765.1:p.Asn411Ser
ENST00000635812.1:c.*857A>G	ENSP00000490859.1:n.*857A>G
ENST00000635866.1:c.*1425A>G	ENSP00000489866.1:n.*1425A>G
ENST00000635911.1:n.3074A>G
ENST00000635984.1:c.1232A>G	ENSP00000489921.1:p.Asn411Ser
ENST00000635996.1:c.1556A>G	ENSP00000490256.1:p.Asn519Ser
ENST00000636107.1:c.1556A>G	ENSP00000489680.1:p.Asn519Ser
ENST00000636311.1:n.1450A>G
ENST00000636343.1:c.1222A>G
ENST00000636379.1:c.1268A>G	ENSP00000490622.1:p.Asn423Ser
ENST00000636398.1:c.1256A>G	ENSP00000489654.1:n.1256A>G
ENST00000636489.1:c.1499A>G	ENSP00000489998.1:p.Asn500Ser
ENST00000636616.1:n.1117A>G
ENST00000636702.1:c.1526A>G	ENSP00000489623.1:p.Asn509Ser
ENST00000636954.1:c.1499A>G	ENSP00000489966.1:p.Asn500Ser
ENST00000637089.1:c.1556A>G	ENSP00000489854.1:p.Asn519Ser
ENST00000637121.1:n.1358A>G
ENST00000637263.1:c.1556A>G	ENSP00000489700.1:p.Asn519Ser
ENST00000637340.1:n.3481A>G
ENST00000637353.1:c.1556A>G	ENSP00000490441.1:p.Asn519Ser
ENST00000637602.1:c.*1257A>G	ENSP00000490074.1:n.*1257A>G
ENST00000637849.1:n.1620A>G
ENST00000637892.1:n.1760A>G
ENST00000371068.9:c.1556A>G	ENSP00000360107.4:p.Asn519Ser
ENST00000480623.5:c.*1976A>G	ENSP00000434498.1:n.*1976A>G
ENST00000538167.2:c.1499A>G	ENSP00000444521.1:p.Asn500Ser
NM_001172420.1:c.1499A>G	NP_001165891.1:p.Asn500Ser
NM_018100.3:c.1556A>G	NP_060570.2:p.Asn519Ser
NR_033327.1:n.3028A>G
NM_018100.4:c.1556A>G MANE Select	NP_060570.2:p.Asn519Ser
NM_001172420.2:c.1499A>G	NP_001165891.1:p.Asn500Ser
NR_033327.2:n.2882A>G