Canonical Allele Identifier: CA3855982

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52465082T>C , CM000668.2:g.52465082T>C	GRCh38
NC_000006.11:g.52329880T>C , CM000668.1:g.52329880T>C	GRCh37
NC_000006.10:g.52437839T>C	NCBI36
NG_016760.1:g.49887T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018100.4:c.1104T>C MANE Select	NP_060570.2:p.Asp368=
ENST00000371068.11:c.1104T>C MANE Select	ENSP00000360107.4:p.Asp368=
NM_001172420.1:c.1047T>C	NP_001165891.1:p.Asp349=
NM_001172420.2:c.1047T>C	NP_001165891.1:p.Asp349=
NM_018100.3:c.1104T>C	NP_060570.2:p.Asp368=
NR_033327.1:n.2576T>C
NR_033327.2:n.2430T>C
ENST00000371068.9:c.1104T>C	ENSP00000360107.4:p.Asp368=
ENST00000480623.5:c.*1524T>C	ENSP00000434498.1:n.*1524T>C
ENST00000480623.6:c.1104T>C	ENSP00000434498.2:p.Asp368=
ENST00000538167.2:c.1047T>C	ENSP00000444521.1:p.Asp349=
ENST00000635760.1:c.780T>C	ENSP00000489765.1:p.Asp260=
ENST00000635812.1:c.*405T>C	ENSP00000490859.1:n.*405T>C
ENST00000635866.1:c.*973T>C	ENSP00000489866.1:n.*973T>C
ENST00000635911.1:n.2622T>C
ENST00000635984.1:c.780T>C	ENSP00000489921.1:p.Asp260=
ENST00000635996.1:c.1104T>C	ENSP00000490256.1:p.Asp368=
ENST00000636107.1:c.1104T>C	ENSP00000489680.1:p.Asp368=
ENST00000636311.1:n.998T>C
ENST00000636343.1:c.770T>C
ENST00000636379.1:c.816T>C	ENSP00000490622.1:p.Asp272=
ENST00000636398.1:c.804T>C	ENSP00000489654.1:n.804T>C
ENST00000636489.1:c.1047T>C	ENSP00000489998.1:p.Asp349=
ENST00000636616.1:n.720T>C
ENST00000636702.1:c.1074T>C	ENSP00000489623.1:p.Asp358=
ENST00000636954.1:c.1047T>C	ENSP00000489966.1:p.Asp349=
ENST00000637089.1:c.1104T>C	ENSP00000489854.1:p.Asp368=
ENST00000637263.1:c.1104T>C	ENSP00000489700.1:p.Asp368=
ENST00000637340.1:n.3029T>C
ENST00000637353.1:c.1104T>C	ENSP00000490441.1:p.Asp368=
ENST00000637602.1:c.*805T>C	ENSP00000490074.1:n.*805T>C
ENST00000637849.1:n.1168T>C
ENST00000637874.1:c.83-4251T>C	ENSP00000490348.1:n.83-4251T>C
ENST00000637892.1:n.1308T>C