Canonical Allele Identifier: CA364457261

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52343916C>G (hg19) ; chr6:g.52479118C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479118C>G , CM000668.2:g.52479118C>G	GRCh38
NC_000006.11:g.52343916C>G , CM000668.1:g.52343916C>G	GRCh37
NC_000006.10:g.52451875C>G	NCBI36
NG_016760.1:g.63923C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1360C>G MANE Select	ENSP00000360107.4:p.Pro454Ala
ENST00000480623.6:c.1360C>G	ENSP00000434498.2:p.Pro454Ala
ENST00000635760.1:c.1036C>G	ENSP00000489765.1:p.Pro346Ala
ENST00000635812.1:c.*661C>G	ENSP00000490859.1:n.*661C>G
ENST00000635866.1:c.*1229C>G	ENSP00000489866.1:n.*1229C>G
ENST00000635911.1:n.2878C>G
ENST00000635984.1:c.1036C>G	ENSP00000489921.1:p.Pro346Ala
ENST00000635996.1:c.1360C>G	ENSP00000490256.1:p.Pro454Ala
ENST00000636107.1:c.1360C>G	ENSP00000489680.1:p.Pro454Ala
ENST00000636311.1:n.1254C>G
ENST00000636343.1:c.1026C>G
ENST00000636379.1:c.1072C>G	ENSP00000490622.1:p.Pro358Ala
ENST00000636398.1:c.1060C>G	ENSP00000489654.1:n.1060C>G
ENST00000636489.1:c.1303C>G	ENSP00000489998.1:p.Pro435Ala
ENST00000636616.1:n.921C>G
ENST00000636702.1:c.1330C>G	ENSP00000489623.1:p.Pro444Ala
ENST00000636954.1:c.1303C>G	ENSP00000489966.1:p.Pro435Ala
ENST00000637089.1:c.1360C>G	ENSP00000489854.1:p.Pro454Ala
ENST00000637121.1:n.1162C>G
ENST00000637263.1:c.1360C>G	ENSP00000489700.1:p.Pro454Ala
ENST00000637340.1:n.3285C>G
ENST00000637353.1:c.1360C>G	ENSP00000490441.1:p.Pro454Ala
ENST00000637602.1:c.*1061C>G	ENSP00000490074.1:n.*1061C>G
ENST00000637849.1:n.1424C>G
ENST00000637874.1:c.305C>G	ENSP00000490348.1:n.305C>G
ENST00000637892.1:n.1564C>G
ENST00000371068.9:c.1360C>G	ENSP00000360107.4:p.Pro454Ala
ENST00000480623.5:c.*1780C>G	ENSP00000434498.1:n.*1780C>G
ENST00000538167.2:c.1303C>G	ENSP00000444521.1:p.Pro435Ala
NM_001172420.1:c.1303C>G	NP_001165891.1:p.Pro435Ala
NM_018100.3:c.1360C>G	NP_060570.2:p.Pro454Ala
NR_033327.1:n.2832C>G
NM_018100.4:c.1360C>G MANE Select	NP_060570.2:p.Pro454Ala
NM_001172420.2:c.1303C>G	NP_001165891.1:p.Pro435Ala
NR_033327.2:n.2686C>G