Canonical Allele Identifier: CA1628820808

Gene: EFHC1

Linked Data

• dbSNP Id: rs754567679

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452847A>C , CM000668.2:g.52452847A>C	GRCh38
NC_000006.11:g.52317645A>C , CM000668.1:g.52317645A>C	GRCh37
NC_000006.10:g.52425604A>C	NCBI36
NG_016760.1:g.37652A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.723+10A>C MANE Select	ENSP00000360107.4:n.723+10A>C
ENST00000480623.6:c.723+10A>C	ENSP00000434498.2:n.723+10A>C
ENST00000635760.1:c.399+10A>C	ENSP00000489765.1:n.399+10A>C
ENST00000635812.1:c.723+10A>C	ENSP00000490859.1:n.723+10A>C
ENST00000635866.1:c.*592+10A>C	ENSP00000489866.1:n.*592+10A>C
ENST00000635911.1:n.994A>C
ENST00000635984.1:c.399+10A>C	ENSP00000489921.1:n.399+10A>C
ENST00000635996.1:c.723+10A>C	ENSP00000490256.1:n.723+10A>C
ENST00000636107.1:c.723+10A>C	ENSP00000489680.1:n.723+10A>C
ENST00000636253.1:n.377+10A>C
ENST00000636311.1:n.617+10A>C
ENST00000636343.1:c.389+10A>C
ENST00000636379.1:c.435+10A>C	ENSP00000490622.1:n.435+10A>C
ENST00000636398.1:c.390+10A>C	ENSP00000489654.1:n.390+10A>C
ENST00000636489.1:c.666+10A>C	ENSP00000489998.1:n.666+10A>C
ENST00000636702.1:c.693+10A>C	ENSP00000489623.1:n.693+10A>C
ENST00000636954.1:c.666+10A>C	ENSP00000489966.1:n.666+10A>C
ENST00000637089.1:c.723+10A>C	ENSP00000489854.1:n.723+10A>C
ENST00000637200.1:c.*749A>C	ENSP00000490567.1:n.*749A>C
ENST00000637263.1:c.723+10A>C	ENSP00000489700.1:n.723+10A>C
ENST00000637340.1:n.1401A>C
ENST00000637353.1:c.723+10A>C	ENSP00000490441.1:n.723+10A>C
ENST00000637602.1:c.*424+10A>C	ENSP00000490074.1:n.*424+10A>C
ENST00000637849.1:n.787+10A>C
ENST00000637892.1:n.927+10A>C
ENST00000371068.9:c.723+10A>C	ENSP00000360107.4:n.723+10A>C
ENST00000480623.5:c.733A>C	ENSP00000434498.1:p.Ile245Leu
ENST00000538167.2:c.666+10A>C	ENSP00000444521.1:n.666+10A>C
NM_001172420.1:c.666+10A>C	NP_001165891.1:n.666+10A>C
NM_018100.3:c.723+10A>C	NP_060570.2:n.723+10A>C
NR_033327.1:n.948A>C
NM_018100.4:c.723+10A>C MANE Select	NP_060570.2:n.723+10A>C
NM_001172420.2:c.666+10A>C	NP_001165891.1:n.666+10A>C
NR_033327.2:n.802A>C