Canonical Allele Identifier: CA364455439

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52329725G>A (hg19) ; chr6:g.52464927G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464927G>A , CM000668.2:g.52464927G>A	GRCh38
NC_000006.11:g.52329725G>A , CM000668.1:g.52329725G>A	GRCh37
NC_000006.10:g.52437684G>A	NCBI36
NG_016760.1:g.49732G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.949G>A MANE Select	ENSP00000360107.4:p.Asp317Asn
ENST00000480623.6:c.949G>A	ENSP00000434498.2:p.Asp317Asn
ENST00000635760.1:c.625G>A	ENSP00000489765.1:p.Asp209Asn
ENST00000635812.1:c.*250G>A	ENSP00000490859.1:n.*250G>A
ENST00000635866.1:c.*818G>A	ENSP00000489866.1:n.*818G>A
ENST00000635911.1:n.2467G>A
ENST00000635984.1:c.625G>A	ENSP00000489921.1:p.Asp209Asn
ENST00000635996.1:c.949G>A	ENSP00000490256.1:p.Asp317Asn
ENST00000636107.1:c.949G>A	ENSP00000489680.1:p.Asp317Asn
ENST00000636311.1:n.843G>A
ENST00000636343.1:c.615G>A
ENST00000636379.1:c.661G>A	ENSP00000490622.1:p.Asp221Asn
ENST00000636398.1:c.649G>A	ENSP00000489654.1:n.649G>A
ENST00000636489.1:c.892G>A	ENSP00000489998.1:p.Asp298Asn
ENST00000636616.1:n.565G>A
ENST00000636702.1:c.919G>A	ENSP00000489623.1:p.Asp307Asn
ENST00000636954.1:c.892G>A	ENSP00000489966.1:p.Asp298Asn
ENST00000637089.1:c.949G>A	ENSP00000489854.1:p.Asp317Asn
ENST00000637263.1:c.949G>A	ENSP00000489700.1:p.Asp317Asn
ENST00000637340.1:n.2874G>A
ENST00000637353.1:c.949G>A	ENSP00000490441.1:p.Asp317Asn
ENST00000637602.1:c.*650G>A	ENSP00000490074.1:n.*650G>A
ENST00000637849.1:n.1013G>A
ENST00000637874.1:c.83-4406G>A	ENSP00000490348.1:n.83-4406G>A
ENST00000637892.1:n.1153G>A
ENST00000371068.9:c.949G>A	ENSP00000360107.4:p.Asp317Asn
ENST00000480623.5:c.*1369G>A	ENSP00000434498.1:n.*1369G>A
ENST00000538167.2:c.892G>A	ENSP00000444521.1:p.Asp298Asn
NM_001172420.1:c.892G>A	NP_001165891.1:p.Asp298Asn
NM_018100.3:c.949G>A	NP_060570.2:p.Asp317Asn
NR_033327.1:n.2421G>A
NM_018100.4:c.949G>A MANE Select	NP_060570.2:p.Asp317Asn
NM_001172420.2:c.892G>A	NP_001165891.1:p.Asp298Asn
NR_033327.2:n.2275G>A