Canonical Allele Identifier: CA364457283

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479122-C-A
• MyVariant Identifiers: chr6:g.52343920C>A (hg19) ; chr6:g.52479122C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479122C>A , CM000668.2:g.52479122C>A	GRCh38
NC_000006.11:g.52343920C>A , CM000668.1:g.52343920C>A	GRCh37
NC_000006.10:g.52451879C>A	NCBI36
NG_016760.1:g.63927C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1364C>A MANE Select	ENSP00000360107.4:p.Pro455His
ENST00000480623.6:c.1364C>A	ENSP00000434498.2:p.Pro455His
ENST00000635760.1:c.1040C>A	ENSP00000489765.1:p.Pro347His
ENST00000635812.1:c.*665C>A	ENSP00000490859.1:n.*665C>A
ENST00000635866.1:c.*1233C>A	ENSP00000489866.1:n.*1233C>A
ENST00000635911.1:n.2882C>A
ENST00000635984.1:c.1040C>A	ENSP00000489921.1:p.Pro347His
ENST00000635996.1:c.1364C>A	ENSP00000490256.1:p.Pro455His
ENST00000636107.1:c.1364C>A	ENSP00000489680.1:p.Pro455His
ENST00000636311.1:n.1258C>A
ENST00000636343.1:c.1030C>A
ENST00000636379.1:c.1076C>A	ENSP00000490622.1:p.Pro359His
ENST00000636398.1:c.1064C>A	ENSP00000489654.1:n.1064C>A
ENST00000636489.1:c.1307C>A	ENSP00000489998.1:p.Pro436His
ENST00000636616.1:n.925C>A
ENST00000636702.1:c.1334C>A	ENSP00000489623.1:p.Pro445His
ENST00000636954.1:c.1307C>A	ENSP00000489966.1:p.Pro436His
ENST00000637089.1:c.1364C>A	ENSP00000489854.1:p.Pro455His
ENST00000637121.1:n.1166C>A
ENST00000637263.1:c.1364C>A	ENSP00000489700.1:p.Pro455His
ENST00000637340.1:n.3289C>A
ENST00000637353.1:c.1364C>A	ENSP00000490441.1:p.Pro455His
ENST00000637602.1:c.*1065C>A	ENSP00000490074.1:n.*1065C>A
ENST00000637849.1:n.1428C>A
ENST00000637874.1:c.309C>A	ENSP00000490348.1:n.309C>A
ENST00000637892.1:n.1568C>A
ENST00000371068.9:c.1364C>A	ENSP00000360107.4:p.Pro455His
ENST00000480623.5:c.*1784C>A	ENSP00000434498.1:n.*1784C>A
ENST00000538167.2:c.1307C>A	ENSP00000444521.1:p.Pro436His
NM_001172420.1:c.1307C>A	NP_001165891.1:p.Pro436His
NM_018100.3:c.1364C>A	NP_060570.2:p.Pro455His
NR_033327.1:n.2836C>A
NM_018100.4:c.1364C>A MANE Select	NP_060570.2:p.Pro455His
NM_001172420.2:c.1307C>A	NP_001165891.1:p.Pro436His
NR_033327.2:n.2690C>A