Canonical Allele Identifier: CA364457848

Gene: EFHC1

Linked Data

• dbSNP Id: rs1765628270
• MyVariant Identifiers: chr6:g.52344460C>G (hg19) ; chr6:g.52479662C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479662C>G , CM000668.2:g.52479662C>G	GRCh38
NC_000006.11:g.52344460C>G , CM000668.1:g.52344460C>G	GRCh37
NC_000006.10:g.52452419C>G	NCBI36
NG_016760.1:g.64467C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.1515C>G MANE Select	ENSP00000360107.4:p.Ile505Met
ENST00000480623.6:c.1515C>G	ENSP00000434498.2:p.Ile505Met
ENST00000635760.1:c.1191C>G	ENSP00000489765.1:p.Ile397Met
ENST00000635812.1:c.*816C>G	ENSP00000490859.1:n.*816C>G
ENST00000635866.1:c.*1384C>G	ENSP00000489866.1:n.*1384C>G
ENST00000635911.1:n.3033C>G
ENST00000635984.1:c.1191C>G	ENSP00000489921.1:p.Ile397Met
ENST00000635996.1:c.1515C>G	ENSP00000490256.1:p.Ile505Met
ENST00000636107.1:c.1515C>G	ENSP00000489680.1:p.Ile505Met
ENST00000636311.1:n.1409C>G
ENST00000636343.1:c.1181C>G
ENST00000636379.1:c.1227C>G	ENSP00000490622.1:p.Ile409Met
ENST00000636398.1:c.1215C>G	ENSP00000489654.1:n.1215C>G
ENST00000636489.1:c.1458C>G	ENSP00000489998.1:p.Ile486Met
ENST00000636616.1:n.1076C>G
ENST00000636702.1:c.1485C>G	ENSP00000489623.1:p.Ile495Met
ENST00000636954.1:c.1458C>G	ENSP00000489966.1:p.Ile486Met
ENST00000637089.1:c.1515C>G	ENSP00000489854.1:p.Ile505Met
ENST00000637121.1:n.1317C>G
ENST00000637263.1:c.1515C>G	ENSP00000489700.1:p.Ile505Met
ENST00000637340.1:n.3440C>G
ENST00000637353.1:c.1515C>G	ENSP00000490441.1:p.Ile505Met
ENST00000637602.1:c.*1216C>G	ENSP00000490074.1:n.*1216C>G
ENST00000637849.1:n.1579C>G
ENST00000637874.1:c.460C>G	ENSP00000490348.1:n.460C>G
ENST00000637892.1:n.1719C>G
ENST00000371068.9:c.1515C>G	ENSP00000360107.4:p.Ile505Met
ENST00000480623.5:c.*1935C>G	ENSP00000434498.1:n.*1935C>G
ENST00000538167.2:c.1458C>G	ENSP00000444521.1:p.Ile486Met
NM_001172420.1:c.1458C>G	NP_001165891.1:p.Ile486Met
NM_018100.3:c.1515C>G	NP_060570.2:p.Ile505Met
NR_033327.1:n.2987C>G
NM_018100.4:c.1515C>G MANE Select	NP_060570.2:p.Ile505Met
NM_001172420.2:c.1458C>G	NP_001165891.1:p.Ile486Met
NR_033327.2:n.2841C>G