Canonical Allele Identifier: CA364458018

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52344485A>T (hg19) ; chr6:g.52479687A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479687A>T , CM000668.2:g.52479687A>T	GRCh38
NC_000006.11:g.52344485A>T , CM000668.1:g.52344485A>T	GRCh37
NC_000006.10:g.52452444A>T	NCBI36
NG_016760.1:g.64492A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1540A>T MANE Select	ENSP00000360107.4:p.Lys514Ter
ENST00000480623.6:c.1540A>T	ENSP00000434498.2:p.Lys514Ter
ENST00000635760.1:c.1216A>T	ENSP00000489765.1:p.Lys406Ter
ENST00000635812.1:c.*841A>T	ENSP00000490859.1:n.*841A>T
ENST00000635866.1:c.*1409A>T	ENSP00000489866.1:n.*1409A>T
ENST00000635911.1:n.3058A>T
ENST00000635984.1:c.1216A>T	ENSP00000489921.1:p.Lys406Ter
ENST00000635996.1:c.1540A>T	ENSP00000490256.1:p.Lys514Ter
ENST00000636107.1:c.1540A>T	ENSP00000489680.1:p.Lys514Ter
ENST00000636311.1:n.1434A>T
ENST00000636343.1:c.1206A>T
ENST00000636379.1:c.1252A>T	ENSP00000490622.1:p.Lys418Ter
ENST00000636398.1:c.1240A>T	ENSP00000489654.1:n.1240A>T
ENST00000636489.1:c.1483A>T	ENSP00000489998.1:p.Lys495Ter
ENST00000636616.1:n.1101A>T
ENST00000636702.1:c.1510A>T	ENSP00000489623.1:p.Lys504Ter
ENST00000636954.1:c.1483A>T	ENSP00000489966.1:p.Lys495Ter
ENST00000637089.1:c.1540A>T	ENSP00000489854.1:p.Lys514Ter
ENST00000637121.1:n.1342A>T
ENST00000637263.1:c.1540A>T	ENSP00000489700.1:p.Lys514Ter
ENST00000637340.1:n.3465A>T
ENST00000637353.1:c.1540A>T	ENSP00000490441.1:p.Lys514Ter
ENST00000637602.1:c.*1241A>T	ENSP00000490074.1:n.*1241A>T
ENST00000637849.1:n.1604A>T
ENST00000637874.1:c.485A>T	ENSP00000490348.1:n.485A>T
ENST00000637892.1:n.1744A>T
ENST00000371068.9:c.1540A>T	ENSP00000360107.4:p.Lys514Ter
ENST00000480623.5:c.*1960A>T	ENSP00000434498.1:n.*1960A>T
ENST00000538167.2:c.1483A>T	ENSP00000444521.1:p.Lys495Ter
NM_001172420.1:c.1483A>T	NP_001165891.1:p.Lys495Ter
NM_018100.3:c.1540A>T	NP_060570.2:p.Lys514Ter
NR_033327.1:n.3012A>T
NM_018100.4:c.1540A>T MANE Select	NP_060570.2:p.Lys514Ter
NM_001172420.2:c.1483A>T	NP_001165891.1:p.Lys495Ter
NR_033327.2:n.2866A>T