Canonical Allele Identifier: CA2679104525

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52480018-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52480018G>T , CM000668.2:g.52480018G>T	GRCh38
NC_000006.11:g.52344816G>T , CM000668.1:g.52344816G>T	GRCh37
NC_000006.10:g.52452775G>T	NCBI36
NG_016760.1:g.64823G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1640+231G>T MANE Select	ENSP00000360107.4:n.1640+231G>T
ENST00000480623.6:c.1640+231G>T	ENSP00000434498.2:n.1640+231G>T
ENST00000635760.1:c.1316+231G>T	ENSP00000489765.1:n.1316+231G>T
ENST00000635812.1:c.*941+231G>T	ENSP00000490859.1:n.*941+231G>T
ENST00000635866.1:c.*1509+231G>T	ENSP00000489866.1:n.*1509+231G>T
ENST00000635911.1:n.3158+231G>T
ENST00000635984.1:c.1316+231G>T	ENSP00000489921.1:n.1316+231G>T
ENST00000635996.1:c.1640+231G>T	ENSP00000490256.1:n.1640+231G>T
ENST00000636107.1:c.1640+231G>T	ENSP00000489680.1:n.1640+231G>T
ENST00000636311.1:n.1534+231G>T
ENST00000636343.1:c.1306+231G>T
ENST00000636379.1:c.1352+231G>T	ENSP00000490622.1:n.1352+231G>T
ENST00000636398.1:c.1340+231G>T	ENSP00000489654.1:n.1340+231G>T
ENST00000636489.1:c.1583+231G>T	ENSP00000489998.1:n.1583+231G>T
ENST00000636616.1:n.1201+231G>T
ENST00000636702.1:c.1610+231G>T	ENSP00000489623.1:n.1610+231G>T
ENST00000636954.1:c.1583+231G>T	ENSP00000489966.1:n.1583+231G>T
ENST00000637089.1:c.1640+231G>T	ENSP00000489854.1:n.1640+231G>T
ENST00000637121.1:n.1442+231G>T
ENST00000637263.1:c.*212G>T	ENSP00000489700.1:n.*212G>T
ENST00000637340.1:n.3565+231G>T
ENST00000637353.1:c.1640+231G>T	ENSP00000490441.1:n.1640+231G>T
ENST00000637602.1:c.*1341+231G>T	ENSP00000490074.1:n.*1341+231G>T
ENST00000637849.1:n.1704+231G>T
ENST00000637892.1:n.1844+231G>T
ENST00000371068.9:c.1640+231G>T	ENSP00000360107.4:n.1640+231G>T
ENST00000480623.5:c.*2060+231G>T	ENSP00000434498.1:n.*2060+231G>T
ENST00000538167.2:c.1583+231G>T	ENSP00000444521.1:n.1583+231G>T
NM_001172420.1:c.1583+231G>T	NP_001165891.1:n.1583+231G>T
NM_018100.3:c.1640+231G>T	NP_060570.2:n.1640+231G>T
NR_033327.1:n.3112+231G>T
NM_018100.4:c.1640+231G>T MANE Select	NP_060570.2:n.1640+231G>T
NM_001172420.2:c.1583+231G>T	NP_001165891.1:n.1583+231G>T
NR_033327.2:n.2966+231G>T