Canonical Allele Identifier: CA1628825994

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464937T= , CM000668.2:g.52464937T=	GRCh38
NC_000006.11:g.52329735T= , CM000668.1:g.52329735T=	GRCh37
NC_000006.10:g.52437694T=	NCBI36
NG_016760.1:g.49742T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.959T= MANE Select	ENSP00000360107.4:p.Val320=
ENST00000480623.6:c.959T=	ENSP00000434498.2:p.Val320=
ENST00000635760.1:c.635T=	ENSP00000489765.1:p.Val212=
ENST00000635812.1:c.*260T=	ENSP00000490859.1:n.*260T=
ENST00000635866.1:c.*828T=	ENSP00000489866.1:n.*828T=
ENST00000635911.1:n.2477T=
ENST00000635984.1:c.635T=	ENSP00000489921.1:p.Val212=
ENST00000635996.1:c.959T=	ENSP00000490256.1:p.Val320=
ENST00000636107.1:c.959T=	ENSP00000489680.1:p.Val320=
ENST00000636311.1:n.853T=
ENST00000636343.1:c.625T=
ENST00000636379.1:c.671T=	ENSP00000490622.1:p.Val224=
ENST00000636398.1:c.659T=	ENSP00000489654.1:n.659T=
ENST00000636489.1:c.902T=	ENSP00000489998.1:p.Val301=
ENST00000636616.1:n.575T=
ENST00000636702.1:c.929T=	ENSP00000489623.1:p.Val310=
ENST00000636954.1:c.902T=	ENSP00000489966.1:p.Val301=
ENST00000637089.1:c.959T=	ENSP00000489854.1:p.Val320=
ENST00000637263.1:c.959T=	ENSP00000489700.1:p.Val320=
ENST00000637340.1:n.2884T=
ENST00000637353.1:c.959T=	ENSP00000490441.1:p.Val320=
ENST00000637602.1:c.*660T=	ENSP00000490074.1:n.*660T=
ENST00000637849.1:n.1023T=
ENST00000637874.1:c.83-4396T=	ENSP00000490348.1:n.83-4396T=
ENST00000637892.1:n.1163T=
ENST00000371068.9:c.959T=	ENSP00000360107.4:p.Val320=
ENST00000480623.5:c.*1379T=	ENSP00000434498.1:n.*1379T=
ENST00000538167.2:c.902T=	ENSP00000444521.1:p.Val301=
NM_001172420.1:c.902T=	NP_001165891.1:p.Val301=
NM_018100.3:c.959T=	NP_060570.2:p.Val320=
NR_033327.1:n.2431T=
NM_018100.4:c.959T= MANE Select	NP_060570.2:p.Val320=
NM_001172420.2:c.902T=	NP_001165891.1:p.Val301=
NR_033327.2:n.2285T=