Canonical Allele Identifier: CA138977749

Gene: EFHC1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52454128G>A , CM000668.2:g.52454128G>A	GRCh38
NC_000006.11:g.52318926G>A , CM000668.1:g.52318926G>A	GRCh37
NC_000006.10:g.52426885G>A	NCBI36
NG_016760.1:g.38933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.757G>A MANE Select	ENSP00000360107.4:p.Asp253Asn
ENST00000480623.6:c.757G>A	ENSP00000434498.2:p.Asp253Asn
ENST00000635760.1:c.433G>A	ENSP00000489765.1:p.Asp145Asn
ENST00000635812.1:c.*58G>A	ENSP00000490859.1:n.*58G>A
ENST00000635866.1:c.*626G>A	ENSP00000489866.1:n.*626G>A
ENST00000635911.1:n.2275G>A
ENST00000635984.1:c.433G>A	ENSP00000489921.1:p.Asp145Asn
ENST00000635996.1:c.757G>A	ENSP00000490256.1:p.Asp253Asn
ENST00000636107.1:c.757G>A	ENSP00000489680.1:p.Asp253Asn
ENST00000636311.1:n.651G>A
ENST00000636343.1:c.423G>A
ENST00000636379.1:c.469G>A	ENSP00000490622.1:p.Asp157Asn
ENST00000636398.1:c.457G>A	ENSP00000489654.1:n.457G>A
ENST00000636489.1:c.700G>A	ENSP00000489998.1:p.Asp234Asn
ENST00000636616.1:n.373G>A
ENST00000636702.1:c.727G>A	ENSP00000489623.1:p.Asp243Asn
ENST00000636954.1:c.700G>A	ENSP00000489966.1:p.Asp234Asn
ENST00000637089.1:c.757G>A	ENSP00000489854.1:p.Asp253Asn
ENST00000637263.1:c.757G>A	ENSP00000489700.1:p.Asp253Asn
ENST00000637340.1:n.2682G>A
ENST00000637353.1:c.757G>A	ENSP00000490441.1:p.Asp253Asn
ENST00000637602.1:c.*458G>A	ENSP00000490074.1:n.*458G>A
ENST00000637849.1:n.821G>A
ENST00000637892.1:n.961G>A
ENST00000371068.9:c.757G>A	ENSP00000360107.4:p.Asp253Asn
ENST00000480623.5:c.*1177G>A	ENSP00000434498.1:n.*1177G>A
ENST00000538167.2:c.700G>A	ENSP00000444521.1:p.Asp234Asn
NM_001172420.1:c.700G>A	NP_001165891.1:p.Asp234Asn
NM_018100.3:c.757G>A	NP_060570.2:p.Asp253Asn
NR_033327.1:n.2229G>A
NM_018100.4:c.757G>A MANE Select	NP_060570.2:p.Asp253Asn
NM_001172420.2:c.700G>A	NP_001165891.1:p.Asp234Asn
NR_033327.2:n.2083G>A