Canonical Allele Identifier: CA364455466

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52329729A>C (hg19) ; chr6:g.52464931A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464931A>C , CM000668.2:g.52464931A>C	GRCh38
NC_000006.11:g.52329729A>C , CM000668.1:g.52329729A>C	GRCh37
NC_000006.10:g.52437688A>C	NCBI36
NG_016760.1:g.49736A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.953A>C MANE Select	ENSP00000360107.4:p.Gln318Pro
ENST00000480623.6:c.953A>C	ENSP00000434498.2:p.Gln318Pro
ENST00000635760.1:c.629A>C	ENSP00000489765.1:p.Gln210Pro
ENST00000635812.1:c.*254A>C	ENSP00000490859.1:n.*254A>C
ENST00000635866.1:c.*822A>C	ENSP00000489866.1:n.*822A>C
ENST00000635911.1:n.2471A>C
ENST00000635984.1:c.629A>C	ENSP00000489921.1:p.Gln210Pro
ENST00000635996.1:c.953A>C	ENSP00000490256.1:p.Gln318Pro
ENST00000636107.1:c.953A>C	ENSP00000489680.1:p.Gln318Pro
ENST00000636311.1:n.847A>C
ENST00000636343.1:c.619A>C
ENST00000636379.1:c.665A>C	ENSP00000490622.1:p.Gln222Pro
ENST00000636398.1:c.653A>C	ENSP00000489654.1:n.653A>C
ENST00000636489.1:c.896A>C	ENSP00000489998.1:p.Gln299Pro
ENST00000636616.1:n.569A>C
ENST00000636702.1:c.923A>C	ENSP00000489623.1:p.Gln308Pro
ENST00000636954.1:c.896A>C	ENSP00000489966.1:p.Gln299Pro
ENST00000637089.1:c.953A>C	ENSP00000489854.1:p.Gln318Pro
ENST00000637263.1:c.953A>C	ENSP00000489700.1:p.Gln318Pro
ENST00000637340.1:n.2878A>C
ENST00000637353.1:c.953A>C	ENSP00000490441.1:p.Gln318Pro
ENST00000637602.1:c.*654A>C	ENSP00000490074.1:n.*654A>C
ENST00000637849.1:n.1017A>C
ENST00000637874.1:c.83-4402A>C	ENSP00000490348.1:n.83-4402A>C
ENST00000637892.1:n.1157A>C
ENST00000371068.9:c.953A>C	ENSP00000360107.4:p.Gln318Pro
ENST00000480623.5:c.*1373A>C	ENSP00000434498.1:n.*1373A>C
ENST00000538167.2:c.896A>C	ENSP00000444521.1:p.Gln299Pro
NM_001172420.1:c.896A>C	NP_001165891.1:p.Gln299Pro
NM_018100.3:c.953A>C	NP_060570.2:p.Gln318Pro
NR_033327.1:n.2425A>C
NM_018100.4:c.953A>C MANE Select	NP_060570.2:p.Gln318Pro
NM_001172420.2:c.896A>C	NP_001165891.1:p.Gln299Pro
NR_033327.2:n.2279A>C