Canonical Allele Identifier: CA2679104294

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52478990-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52478990C>A , CM000668.2:g.52478990C>A	GRCh38
NC_000006.11:g.52343788C>A , CM000668.1:g.52343788C>A	GRCh37
NC_000006.10:g.52451747C>A	NCBI36
NG_016760.1:g.63795C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1279-47C>A MANE Select	ENSP00000360107.4:n.1279-47C>A
ENST00000480623.6:c.1279-47C>A	ENSP00000434498.2:n.1279-47C>A
ENST00000635760.1:c.955-47C>A	ENSP00000489765.1:n.955-47C>A
ENST00000635812.1:c.*580-47C>A	ENSP00000490859.1:n.*580-47C>A
ENST00000635866.1:c.*1148-47C>A	ENSP00000489866.1:n.*1148-47C>A
ENST00000635911.1:n.2797-47C>A
ENST00000635984.1:c.955-47C>A	ENSP00000489921.1:n.955-47C>A
ENST00000635996.1:c.1279-47C>A	ENSP00000490256.1:n.1279-47C>A
ENST00000636107.1:c.1279-47C>A	ENSP00000489680.1:n.1279-47C>A
ENST00000636311.1:n.1173-47C>A
ENST00000636343.1:c.945-47C>A
ENST00000636379.1:c.991-47C>A	ENSP00000490622.1:n.991-47C>A
ENST00000636398.1:c.979-47C>A	ENSP00000489654.1:n.979-47C>A
ENST00000636489.1:c.1222-47C>A	ENSP00000489998.1:n.1222-47C>A
ENST00000636616.1:n.895-102C>A
ENST00000636702.1:c.1249-47C>A	ENSP00000489623.1:n.1249-47C>A
ENST00000636954.1:c.1222-47C>A	ENSP00000489966.1:n.1222-47C>A
ENST00000637089.1:c.1279-47C>A	ENSP00000489854.1:n.1279-47C>A
ENST00000637121.1:n.1081-47C>A
ENST00000637263.1:c.1279-47C>A	ENSP00000489700.1:n.1279-47C>A
ENST00000637340.1:n.3204-47C>A
ENST00000637353.1:c.1279-47C>A	ENSP00000490441.1:n.1279-47C>A
ENST00000637602.1:c.*980-47C>A	ENSP00000490074.1:n.*980-47C>A
ENST00000637849.1:n.1343-47C>A
ENST00000637874.1:c.224-47C>A	ENSP00000490348.1:n.224-47C>A
ENST00000637892.1:n.1483-47C>A
ENST00000371068.9:c.1279-47C>A	ENSP00000360107.4:n.1279-47C>A
ENST00000480623.5:c.*1699-47C>A	ENSP00000434498.1:n.*1699-47C>A
ENST00000538167.2:c.1222-47C>A	ENSP00000444521.1:n.1222-47C>A
NM_001172420.1:c.1222-47C>A	NP_001165891.1:n.1222-47C>A
NM_018100.3:c.1279-47C>A	NP_060570.2:n.1279-47C>A
NR_033327.1:n.2751-47C>A
NM_018100.4:c.1279-47C>A MANE Select	NP_060570.2:n.1279-47C>A
NM_001172420.2:c.1222-47C>A	NP_001165891.1:n.1222-47C>A
NR_033327.2:n.2605-47C>A