Canonical Allele Identifier: CA364455482

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52329730A>T (hg19) ; chr6:g.52464932A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464932A>T , CM000668.2:g.52464932A>T	GRCh38
NC_000006.11:g.52329730A>T , CM000668.1:g.52329730A>T	GRCh37
NC_000006.10:g.52437689A>T	NCBI36
NG_016760.1:g.49737A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.954A>T MANE Select	ENSP00000360107.4:p.Gln318His
ENST00000480623.6:c.954A>T	ENSP00000434498.2:p.Gln318His
ENST00000635760.1:c.630A>T	ENSP00000489765.1:p.Gln210His
ENST00000635812.1:c.*255A>T	ENSP00000490859.1:n.*255A>T
ENST00000635866.1:c.*823A>T	ENSP00000489866.1:n.*823A>T
ENST00000635911.1:n.2472A>T
ENST00000635984.1:c.630A>T	ENSP00000489921.1:p.Gln210His
ENST00000635996.1:c.954A>T	ENSP00000490256.1:p.Gln318His
ENST00000636107.1:c.954A>T	ENSP00000489680.1:p.Gln318His
ENST00000636311.1:n.848A>T
ENST00000636343.1:c.620A>T
ENST00000636379.1:c.666A>T	ENSP00000490622.1:p.Gln222His
ENST00000636398.1:c.654A>T	ENSP00000489654.1:n.654A>T
ENST00000636489.1:c.897A>T	ENSP00000489998.1:p.Gln299His
ENST00000636616.1:n.570A>T
ENST00000636702.1:c.924A>T	ENSP00000489623.1:p.Gln308His
ENST00000636954.1:c.897A>T	ENSP00000489966.1:p.Gln299His
ENST00000637089.1:c.954A>T	ENSP00000489854.1:p.Gln318His
ENST00000637263.1:c.954A>T	ENSP00000489700.1:p.Gln318His
ENST00000637340.1:n.2879A>T
ENST00000637353.1:c.954A>T	ENSP00000490441.1:p.Gln318His
ENST00000637602.1:c.*655A>T	ENSP00000490074.1:n.*655A>T
ENST00000637849.1:n.1018A>T
ENST00000637874.1:c.83-4401A>T	ENSP00000490348.1:n.83-4401A>T
ENST00000637892.1:n.1158A>T
ENST00000371068.9:c.954A>T	ENSP00000360107.4:p.Gln318His
ENST00000480623.5:c.*1374A>T	ENSP00000434498.1:n.*1374A>T
ENST00000538167.2:c.897A>T	ENSP00000444521.1:p.Gln299His
NM_001172420.1:c.897A>T	NP_001165891.1:p.Gln299His
NM_018100.3:c.954A>T	NP_060570.2:p.Gln318His
NR_033327.1:n.2426A>T
NM_018100.4:c.954A>T MANE Select	NP_060570.2:p.Gln318His
NM_001172420.2:c.897A>T	NP_001165891.1:p.Gln299His
NR_033327.2:n.2280A>T