Canonical Allele Identifier: CA3855968

Gene: EFHC1

Linked Data

• dbSNP Id: rs749929571
• ExAC: 6:52329779 C / T
• gnomAD v2: 6-52329779-C-T
• gnomAD v4: 6-52464981-C-T
• MyVariant Identifiers: chr6:g.52329779C>T (hg19) ; chr6:g.52464981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464981C>T , CM000668.2:g.52464981C>T	GRCh38
NC_000006.11:g.52329779C>T , CM000668.1:g.52329779C>T	GRCh37
NC_000006.10:g.52437738C>T	NCBI36
NG_016760.1:g.49786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1003C>T MANE Select	ENSP00000360107.4:p.Leu335Phe
ENST00000480623.6:c.1003C>T	ENSP00000434498.2:p.Leu335Phe
ENST00000635760.1:c.679C>T	ENSP00000489765.1:p.Leu227Phe
ENST00000635812.1:c.*304C>T	ENSP00000490859.1:n.*304C>T
ENST00000635866.1:c.*872C>T	ENSP00000489866.1:n.*872C>T
ENST00000635911.1:n.2521C>T
ENST00000635984.1:c.679C>T	ENSP00000489921.1:p.Leu227Phe
ENST00000635996.1:c.1003C>T	ENSP00000490256.1:p.Leu335Phe
ENST00000636107.1:c.1003C>T	ENSP00000489680.1:p.Leu335Phe
ENST00000636311.1:n.897C>T
ENST00000636343.1:c.669C>T
ENST00000636379.1:c.715C>T	ENSP00000490622.1:p.Leu239Phe
ENST00000636398.1:c.703C>T	ENSP00000489654.1:n.703C>T
ENST00000636489.1:c.946C>T	ENSP00000489998.1:p.Leu316Phe
ENST00000636616.1:n.619C>T
ENST00000636702.1:c.973C>T	ENSP00000489623.1:p.Leu325Phe
ENST00000636954.1:c.946C>T	ENSP00000489966.1:p.Leu316Phe
ENST00000637089.1:c.1003C>T	ENSP00000489854.1:p.Leu335Phe
ENST00000637263.1:c.1003C>T	ENSP00000489700.1:p.Leu335Phe
ENST00000637340.1:n.2928C>T
ENST00000637353.1:c.1003C>T	ENSP00000490441.1:p.Leu335Phe
ENST00000637602.1:c.*704C>T	ENSP00000490074.1:n.*704C>T
ENST00000637849.1:n.1067C>T
ENST00000637874.1:c.83-4352C>T	ENSP00000490348.1:n.83-4352C>T
ENST00000637892.1:n.1207C>T
ENST00000371068.9:c.1003C>T	ENSP00000360107.4:p.Leu335Phe
ENST00000480623.5:c.*1423C>T	ENSP00000434498.1:n.*1423C>T
ENST00000538167.2:c.946C>T	ENSP00000444521.1:p.Leu316Phe
NM_001172420.1:c.946C>T	NP_001165891.1:p.Leu316Phe
NM_018100.3:c.1003C>T	NP_060570.2:p.Leu335Phe
NR_033327.1:n.2475C>T
NM_018100.4:c.1003C>T MANE Select	NP_060570.2:p.Leu335Phe
NM_001172420.2:c.946C>T	NP_001165891.1:p.Leu316Phe
NR_033327.2:n.2329C>T