Canonical Allele Identifier: CA364457834

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479660-A-T
• MyVariant Identifiers: chr6:g.52344458A>T (hg19) ; chr6:g.52479660A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479660A>T , CM000668.2:g.52479660A>T	GRCh38
NC_000006.11:g.52344458A>T , CM000668.1:g.52344458A>T	GRCh37
NC_000006.10:g.52452417A>T	NCBI36
NG_016760.1:g.64465A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.1513A>T MANE Select	ENSP00000360107.4:p.Ile505Phe
ENST00000480623.6:c.1513A>T	ENSP00000434498.2:p.Ile505Phe
ENST00000635760.1:c.1189A>T	ENSP00000489765.1:p.Ile397Phe
ENST00000635812.1:c.*814A>T	ENSP00000490859.1:n.*814A>T
ENST00000635866.1:c.*1382A>T	ENSP00000489866.1:n.*1382A>T
ENST00000635911.1:n.3031A>T
ENST00000635984.1:c.1189A>T	ENSP00000489921.1:p.Ile397Phe
ENST00000635996.1:c.1513A>T	ENSP00000490256.1:p.Ile505Phe
ENST00000636107.1:c.1513A>T	ENSP00000489680.1:p.Ile505Phe
ENST00000636311.1:n.1407A>T
ENST00000636343.1:c.1179A>T
ENST00000636379.1:c.1225A>T	ENSP00000490622.1:p.Ile409Phe
ENST00000636398.1:c.1213A>T	ENSP00000489654.1:n.1213A>T
ENST00000636489.1:c.1456A>T	ENSP00000489998.1:p.Ile486Phe
ENST00000636616.1:n.1074A>T
ENST00000636702.1:c.1483A>T	ENSP00000489623.1:p.Ile495Phe
ENST00000636954.1:c.1456A>T	ENSP00000489966.1:p.Ile486Phe
ENST00000637089.1:c.1513A>T	ENSP00000489854.1:p.Ile505Phe
ENST00000637121.1:n.1315A>T
ENST00000637263.1:c.1513A>T	ENSP00000489700.1:p.Ile505Phe
ENST00000637340.1:n.3438A>T
ENST00000637353.1:c.1513A>T	ENSP00000490441.1:p.Ile505Phe
ENST00000637602.1:c.*1214A>T	ENSP00000490074.1:n.*1214A>T
ENST00000637849.1:n.1577A>T
ENST00000637874.1:c.458A>T	ENSP00000490348.1:n.458A>T
ENST00000637892.1:n.1717A>T
ENST00000371068.9:c.1513A>T	ENSP00000360107.4:p.Ile505Phe
ENST00000480623.5:c.*1933A>T	ENSP00000434498.1:n.*1933A>T
ENST00000538167.2:c.1456A>T	ENSP00000444521.1:p.Ile486Phe
NM_001172420.1:c.1456A>T	NP_001165891.1:p.Ile486Phe
NM_018100.3:c.1513A>T	NP_060570.2:p.Ile505Phe
NR_033327.1:n.2985A>T
NM_018100.4:c.1513A>T MANE Select	NP_060570.2:p.Ile505Phe
NM_001172420.2:c.1456A>T	NP_001165891.1:p.Ile486Phe
NR_033327.2:n.2839A>T