Canonical Allele Identifier: CA138988435

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479207C>G , CM000668.2:g.52479207C>G	GRCh38
NC_000006.11:g.52344005C>G , CM000668.1:g.52344005C>G	GRCh37
NC_000006.10:g.52451964C>G	NCBI36
NG_016760.1:g.64012C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018100.4:c.1449C>G MANE Select	NP_060570.2:p.Val483=
ENST00000371068.11:c.1449C>G MANE Select	ENSP00000360107.4:p.Val483=
NM_001172420.1:c.1392C>G	NP_001165891.1:p.Val464=
NM_001172420.2:c.1392C>G	NP_001165891.1:p.Val464=
NM_018100.3:c.1449C>G	NP_060570.2:p.Val483=
NR_033327.1:n.2921C>G
NR_033327.2:n.2775C>G
ENST00000371068.9:c.1449C>G	ENSP00000360107.4:p.Val483=
ENST00000480623.5:c.*1869C>G	ENSP00000434498.1:n.*1869C>G
ENST00000480623.6:c.1449C>G	ENSP00000434498.2:p.Val483=
ENST00000538167.2:c.1392C>G	ENSP00000444521.1:p.Val464=
ENST00000635760.1:c.1125C>G	ENSP00000489765.1:p.Val375=
ENST00000635812.1:c.*750C>G	ENSP00000490859.1:n.*750C>G
ENST00000635866.1:c.*1318C>G	ENSP00000489866.1:n.*1318C>G
ENST00000635911.1:n.2967C>G
ENST00000635984.1:c.1125C>G	ENSP00000489921.1:p.Val375=
ENST00000635996.1:c.1449C>G	ENSP00000490256.1:p.Val483=
ENST00000636107.1:c.1449C>G	ENSP00000489680.1:p.Val483=
ENST00000636311.1:n.1343C>G
ENST00000636343.1:c.1115C>G
ENST00000636379.1:c.1161C>G	ENSP00000490622.1:p.Val387=
ENST00000636398.1:c.1149C>G	ENSP00000489654.1:n.1149C>G
ENST00000636489.1:c.1392C>G	ENSP00000489998.1:p.Val464=
ENST00000636616.1:n.1010C>G
ENST00000636702.1:c.1419C>G	ENSP00000489623.1:p.Val473=
ENST00000636954.1:c.1392C>G	ENSP00000489966.1:p.Val464=
ENST00000637089.1:c.1449C>G	ENSP00000489854.1:p.Val483=
ENST00000637121.1:n.1251C>G
ENST00000637263.1:c.1449C>G	ENSP00000489700.1:p.Val483=
ENST00000637340.1:n.3374C>G
ENST00000637353.1:c.1449C>G	ENSP00000490441.1:p.Val483=
ENST00000637602.1:c.*1150C>G	ENSP00000490074.1:n.*1150C>G
ENST00000637849.1:n.1513C>G
ENST00000637874.1:c.394C>G	ENSP00000490348.1:n.394C>G
ENST00000637892.1:n.1653C>G