Canonical Allele Identifier: CA364452076

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52452743-A-G
• MyVariant Identifiers: chr6:g.52317541A>G (hg19) ; chr6:g.52452743A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452743A>G , CM000668.2:g.52452743A>G	GRCh38
NC_000006.11:g.52317541A>G , CM000668.1:g.52317541A>G	GRCh37
NC_000006.10:g.52425500A>G	NCBI36
NG_016760.1:g.37548A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.629A>G MANE Select	ENSP00000360107.4:p.Asp210Gly
ENST00000480623.6:c.629A>G	ENSP00000434498.2:p.Asp210Gly
ENST00000635760.1:c.305A>G	ENSP00000489765.1:p.Asp102Gly
ENST00000635812.1:c.629A>G	ENSP00000490859.1:p.Asp210Gly
ENST00000635866.1:c.*498A>G	ENSP00000489866.1:n.*498A>G
ENST00000635911.1:n.890A>G
ENST00000635984.1:c.305A>G	ENSP00000489921.1:p.Asp102Gly
ENST00000635996.1:c.629A>G	ENSP00000490256.1:p.Asp210Gly
ENST00000636107.1:c.629A>G	ENSP00000489680.1:p.Asp210Gly
ENST00000636253.1:n.283A>G
ENST00000636311.1:n.523A>G
ENST00000636343.1:c.295A>G
ENST00000636379.1:c.341A>G	ENSP00000490622.1:p.Asp114Gly
ENST00000636398.1:c.296A>G	ENSP00000489654.1:p.Asp99Gly
ENST00000636489.1:c.572A>G	ENSP00000489998.1:p.Asp191Gly
ENST00000636702.1:c.599A>G	ENSP00000489623.1:p.Asp200Gly
ENST00000636954.1:c.572A>G	ENSP00000489966.1:p.Asp191Gly
ENST00000637089.1:c.629A>G	ENSP00000489854.1:p.Asp210Gly
ENST00000637200.1:c.*645A>G	ENSP00000490567.1:n.*645A>G
ENST00000637263.1:c.629A>G	ENSP00000489700.1:p.Asp210Gly
ENST00000637340.1:n.1297A>G
ENST00000637353.1:c.629A>G	ENSP00000490441.1:p.Asp210Gly
ENST00000637602.1:c.*330A>G	ENSP00000490074.1:n.*330A>G
ENST00000637849.1:n.693A>G
ENST00000637892.1:n.833A>G
ENST00000638075.1:c.11A>G	ENSP00000490711.1:p.Asp4Gly
ENST00000371068.9:c.629A>G	ENSP00000360107.4:p.Asp210Gly
ENST00000480623.5:c.629A>G	ENSP00000434498.1:p.Asp210Gly
ENST00000538167.2:c.572A>G	ENSP00000444521.1:p.Asp191Gly
NM_001172420.1:c.572A>G	NP_001165891.1:p.Asp191Gly
NM_018100.3:c.629A>G	NP_060570.2:p.Asp210Gly
NR_033327.1:n.844A>G
NM_018100.4:c.629A>G MANE Select	NP_060570.2:p.Asp210Gly
NM_001172420.2:c.572A>G	NP_001165891.1:p.Asp191Gly
NR_033327.2:n.698A>G