Canonical Allele Identifier: CA364455464

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52464930-C-T
• MyVariant Identifiers: chr6:g.52329728C>T (hg19) ; chr6:g.52464930C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464930C>T , CM000668.2:g.52464930C>T	GRCh38
NC_000006.11:g.52329728C>T , CM000668.1:g.52329728C>T	GRCh37
NC_000006.10:g.52437687C>T	NCBI36
NG_016760.1:g.49735C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.952C>T MANE Select	ENSP00000360107.4:p.Gln318Ter
ENST00000480623.6:c.952C>T	ENSP00000434498.2:p.Gln318Ter
ENST00000635760.1:c.628C>T	ENSP00000489765.1:p.Gln210Ter
ENST00000635812.1:c.*253C>T	ENSP00000490859.1:n.*253C>T
ENST00000635866.1:c.*821C>T	ENSP00000489866.1:n.*821C>T
ENST00000635911.1:n.2470C>T
ENST00000635984.1:c.628C>T	ENSP00000489921.1:p.Gln210Ter
ENST00000635996.1:c.952C>T	ENSP00000490256.1:p.Gln318Ter
ENST00000636107.1:c.952C>T	ENSP00000489680.1:p.Gln318Ter
ENST00000636311.1:n.846C>T
ENST00000636343.1:c.618C>T
ENST00000636379.1:c.664C>T	ENSP00000490622.1:p.Gln222Ter
ENST00000636398.1:c.652C>T	ENSP00000489654.1:n.652C>T
ENST00000636489.1:c.895C>T	ENSP00000489998.1:p.Gln299Ter
ENST00000636616.1:n.568C>T
ENST00000636702.1:c.922C>T	ENSP00000489623.1:p.Gln308Ter
ENST00000636954.1:c.895C>T	ENSP00000489966.1:p.Gln299Ter
ENST00000637089.1:c.952C>T	ENSP00000489854.1:p.Gln318Ter
ENST00000637263.1:c.952C>T	ENSP00000489700.1:p.Gln318Ter
ENST00000637340.1:n.2877C>T
ENST00000637353.1:c.952C>T	ENSP00000490441.1:p.Gln318Ter
ENST00000637602.1:c.*653C>T	ENSP00000490074.1:n.*653C>T
ENST00000637849.1:n.1016C>T
ENST00000637874.1:c.83-4403C>T	ENSP00000490348.1:n.83-4403C>T
ENST00000637892.1:n.1156C>T
ENST00000371068.9:c.952C>T	ENSP00000360107.4:p.Gln318Ter
ENST00000480623.5:c.*1372C>T	ENSP00000434498.1:n.*1372C>T
ENST00000538167.2:c.895C>T	ENSP00000444521.1:p.Gln299Ter
NM_001172420.1:c.895C>T	NP_001165891.1:p.Gln299Ter
NM_018100.3:c.952C>T	NP_060570.2:p.Gln318Ter
NR_033327.1:n.2424C>T
NM_018100.4:c.952C>T MANE Select	NP_060570.2:p.Gln318Ter
NM_001172420.2:c.895C>T	NP_001165891.1:p.Gln299Ter
NR_033327.2:n.2278C>T