Canonical Allele Identifier: CA314450

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52469465G>T , CM000668.2:g.52469465G>T	GRCh38
NC_000006.11:g.52334263G>T , CM000668.1:g.52334263G>T	GRCh37
NC_000006.10:g.52442222G>T	NCBI36
NG_016760.1:g.54270G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1270G>T MANE Select	ENSP00000360107.4:p.Ala424Ser
ENST00000480623.6:c.1270G>T	ENSP00000434498.2:p.Ala424Ser
ENST00000635760.1:c.946G>T	ENSP00000489765.1:p.Ala316Ser
ENST00000635812.1:c.*571G>T	ENSP00000490859.1:n.*571G>T
ENST00000635866.1:c.*1139G>T	ENSP00000489866.1:n.*1139G>T
ENST00000635911.1:n.2788G>T
ENST00000635984.1:c.946G>T	ENSP00000489921.1:p.Ala316Ser
ENST00000635996.1:c.1270G>T	ENSP00000490256.1:p.Ala424Ser
ENST00000636107.1:c.1270G>T	ENSP00000489680.1:p.Ala424Ser
ENST00000636311.1:n.1164G>T
ENST00000636343.1:c.936G>T
ENST00000636379.1:c.982G>T	ENSP00000490622.1:p.Ala328Ser
ENST00000636398.1:c.970G>T	ENSP00000489654.1:n.970G>T
ENST00000636489.1:c.1213G>T	ENSP00000489998.1:p.Ala405Ser
ENST00000636616.1:n.886G>T
ENST00000636702.1:c.1240G>T	ENSP00000489623.1:p.Ala414Ser
ENST00000636954.1:c.1213G>T	ENSP00000489966.1:p.Ala405Ser
ENST00000637089.1:c.1270G>T	ENSP00000489854.1:p.Ala424Ser
ENST00000637121.1:n.1072G>T
ENST00000637263.1:c.1270G>T	ENSP00000489700.1:p.Ala424Ser
ENST00000637340.1:n.3195G>T
ENST00000637353.1:c.1270G>T	ENSP00000490441.1:p.Ala424Ser
ENST00000637602.1:c.*971G>T	ENSP00000490074.1:n.*971G>T
ENST00000637849.1:n.1334G>T
ENST00000637874.1:c.215G>T	ENSP00000490348.1:n.215G>T
ENST00000637892.1:n.1474G>T
ENST00000371068.9:c.1270G>T	ENSP00000360107.4:p.Ala424Ser
ENST00000480623.5:c.*1690G>T	ENSP00000434498.1:n.*1690G>T
ENST00000538167.2:c.1213G>T	ENSP00000444521.1:p.Ala405Ser
NM_001172420.1:c.1213G>T	NP_001165891.1:p.Ala405Ser
NM_018100.3:c.1270G>T	NP_060570.2:p.Ala424Ser
NR_033327.1:n.2742G>T
NM_018100.4:c.1270G>T MANE Select	NP_060570.2:p.Ala424Ser
NM_001172420.2:c.1213G>T	NP_001165891.1:p.Ala405Ser
NR_033327.2:n.2596G>T