Canonical Allele Identifier: CA364456805

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52424159G>C , CM000668.2:g.52424159G>C	GRCh38
NC_000006.11:g.52288957G>C , CM000668.1:g.52288957G>C	GRCh37
NC_000006.10:g.52396916G>C	NCBI36
NG_016760.1:g.8964G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018100.4:c.277G>C MANE Select	NP_060570.2:p.Asp93His
ENST00000371068.11:c.277G>C MANE Select	ENSP00000360107.4:p.Asp93His
NM_001172420.1:c.220G>C	NP_001165891.1:p.Asp74His
NM_001172420.2:c.220G>C	NP_001165891.1:p.Asp74His
NM_018100.3:c.277G>C	NP_060570.2:p.Asp93His
NR_033327.1:n.492G>C
NR_033327.2:n.346G>C
ENST00000371068.9:c.277G>C	ENSP00000360107.4:p.Asp93His
ENST00000480623.5:c.277G>C	ENSP00000434498.1:p.Asp93His
ENST00000480623.6:c.277G>C	ENSP00000434498.2:p.Asp93His
ENST00000491749.1:n.326G>C
ENST00000491749.2:n.301G>C
ENST00000538167.2:c.220G>C	ENSP00000444521.1:p.Asp74His
ENST00000635760.1:c.-48G>C	ENSP00000489765.1:n.-48G>C
ENST00000635812.1:c.277G>C	ENSP00000490859.1:p.Asp93His
ENST00000635843.1:n.315G>C
ENST00000635866.1:c.277G>C	ENSP00000489866.1:p.Asp93His
ENST00000635911.1:n.538G>C
ENST00000635963.1:c.277G>C	ENSP00000489852.1:p.Asp93His
ENST00000635984.1:c.-48G>C	ENSP00000489921.1:n.-48G>C
ENST00000635996.1:c.277G>C	ENSP00000490256.1:p.Asp93His
ENST00000636107.1:c.277G>C	ENSP00000489680.1:p.Asp93His
ENST00000636311.1:n.308G>C
ENST00000636379.1:c.277G>C	ENSP00000490622.1:p.Asp93His
ENST00000636489.1:c.220G>C	ENSP00000489998.1:p.Asp74His
ENST00000636566.1:c.-48G>C	ENSP00000490602.1:n.-48G>C
ENST00000636702.1:c.247G>C	ENSP00000489623.1:p.Asp83His
ENST00000636954.1:c.220G>C	ENSP00000489966.1:p.Asp74His
ENST00000637089.1:c.277G>C	ENSP00000489854.1:p.Asp93His
ENST00000637200.1:c.277G>C	ENSP00000490567.1:p.Asp93His
ENST00000637263.1:c.277G>C	ENSP00000489700.1:p.Asp93His
ENST00000637315.1:c.259G>C	ENSP00000489708.1:p.Asp87His
ENST00000637340.1:n.945G>C
ENST00000637353.1:c.277G>C	ENSP00000490441.1:p.Asp93His
ENST00000637602.1:c.199+78G>C	ENSP00000490074.1:n.199+78G>C
ENST00000637849.1:n.341G>C
ENST00000637892.1:n.481G>C
ENST00000638075.1:c.-263G>C	ENSP00000490711.1:n.-263G>C
ENST00000638140.1:n.391G>C