Canonical Allele Identifier: CA364455414

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52329720T>G (hg19) ; chr6:g.52464922T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464922T>G , CM000668.2:g.52464922T>G	GRCh38
NC_000006.11:g.52329720T>G , CM000668.1:g.52329720T>G	GRCh37
NC_000006.10:g.52437679T>G	NCBI36
NG_016760.1:g.49727T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.944T>G MANE Select	ENSP00000360107.4:p.Ile315Ser
ENST00000480623.6:c.944T>G	ENSP00000434498.2:p.Ile315Ser
ENST00000635760.1:c.620T>G	ENSP00000489765.1:p.Ile207Ser
ENST00000635812.1:c.*245T>G	ENSP00000490859.1:n.*245T>G
ENST00000635866.1:c.*813T>G	ENSP00000489866.1:n.*813T>G
ENST00000635911.1:n.2462T>G
ENST00000635984.1:c.620T>G	ENSP00000489921.1:p.Ile207Ser
ENST00000635996.1:c.944T>G	ENSP00000490256.1:p.Ile315Ser
ENST00000636107.1:c.944T>G	ENSP00000489680.1:p.Ile315Ser
ENST00000636311.1:n.838T>G
ENST00000636343.1:c.610T>G
ENST00000636379.1:c.656T>G	ENSP00000490622.1:p.Ile219Ser
ENST00000636398.1:c.644T>G	ENSP00000489654.1:n.644T>G
ENST00000636489.1:c.887T>G	ENSP00000489998.1:p.Ile296Ser
ENST00000636616.1:n.560T>G
ENST00000636702.1:c.914T>G	ENSP00000489623.1:p.Ile305Ser
ENST00000636954.1:c.887T>G	ENSP00000489966.1:p.Ile296Ser
ENST00000637089.1:c.944T>G	ENSP00000489854.1:p.Ile315Ser
ENST00000637263.1:c.944T>G	ENSP00000489700.1:p.Ile315Ser
ENST00000637340.1:n.2869T>G
ENST00000637353.1:c.944T>G	ENSP00000490441.1:p.Ile315Ser
ENST00000637602.1:c.*645T>G	ENSP00000490074.1:n.*645T>G
ENST00000637849.1:n.1008T>G
ENST00000637874.1:c.83-4411T>G	ENSP00000490348.1:n.83-4411T>G
ENST00000637892.1:n.1148T>G
ENST00000371068.9:c.944T>G	ENSP00000360107.4:p.Ile315Ser
ENST00000480623.5:c.*1364T>G	ENSP00000434498.1:n.*1364T>G
ENST00000538167.2:c.887T>G	ENSP00000444521.1:p.Ile296Ser
NM_001172420.1:c.887T>G	NP_001165891.1:p.Ile296Ser
NM_018100.3:c.944T>G	NP_060570.2:p.Ile315Ser
NR_033327.1:n.2416T>G
NM_018100.4:c.944T>G MANE Select	NP_060570.2:p.Ile315Ser
NM_001172420.2:c.887T>G	NP_001165891.1:p.Ile296Ser
NR_033327.2:n.2270T>G