Canonical Allele Identifier: CA364455382

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52464916-T-G
• MyVariant Identifiers: chr6:g.52329714T>G (hg19) ; chr6:g.52464916T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464916T>G , CM000668.2:g.52464916T>G	GRCh38
NC_000006.11:g.52329714T>G , CM000668.1:g.52329714T>G	GRCh37
NC_000006.10:g.52437673T>G	NCBI36
NG_016760.1:g.49721T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.938T>G MANE Select	ENSP00000360107.4:p.Leu313Arg
ENST00000480623.6:c.938T>G	ENSP00000434498.2:p.Leu313Arg
ENST00000635760.1:c.614T>G	ENSP00000489765.1:p.Leu205Arg
ENST00000635812.1:c.*239T>G	ENSP00000490859.1:n.*239T>G
ENST00000635866.1:c.*807T>G	ENSP00000489866.1:n.*807T>G
ENST00000635911.1:n.2456T>G
ENST00000635984.1:c.614T>G	ENSP00000489921.1:p.Leu205Arg
ENST00000635996.1:c.938T>G	ENSP00000490256.1:p.Leu313Arg
ENST00000636107.1:c.938T>G	ENSP00000489680.1:p.Leu313Arg
ENST00000636311.1:n.832T>G
ENST00000636343.1:c.604T>G
ENST00000636379.1:c.650T>G	ENSP00000490622.1:p.Leu217Arg
ENST00000636398.1:c.638T>G	ENSP00000489654.1:n.638T>G
ENST00000636489.1:c.881T>G	ENSP00000489998.1:p.Leu294Arg
ENST00000636616.1:n.554T>G
ENST00000636702.1:c.908T>G	ENSP00000489623.1:p.Leu303Arg
ENST00000636954.1:c.881T>G	ENSP00000489966.1:p.Leu294Arg
ENST00000637089.1:c.938T>G	ENSP00000489854.1:p.Leu313Arg
ENST00000637263.1:c.938T>G	ENSP00000489700.1:p.Leu313Arg
ENST00000637340.1:n.2863T>G
ENST00000637353.1:c.938T>G	ENSP00000490441.1:p.Leu313Arg
ENST00000637602.1:c.*639T>G	ENSP00000490074.1:n.*639T>G
ENST00000637849.1:n.1002T>G
ENST00000637874.1:c.83-4417T>G	ENSP00000490348.1:n.83-4417T>G
ENST00000637892.1:n.1142T>G
ENST00000371068.9:c.938T>G	ENSP00000360107.4:p.Leu313Arg
ENST00000480623.5:c.*1358T>G	ENSP00000434498.1:n.*1358T>G
ENST00000538167.2:c.881T>G	ENSP00000444521.1:p.Leu294Arg
NM_001172420.1:c.881T>G	NP_001165891.1:p.Leu294Arg
NM_018100.3:c.938T>G	NP_060570.2:p.Leu313Arg
NR_033327.1:n.2410T>G
NM_018100.4:c.938T>G MANE Select	NP_060570.2:p.Leu313Arg
NM_001172420.2:c.881T>G	NP_001165891.1:p.Leu294Arg
NR_033327.2:n.2264T>G