Canonical Allele Identifier: CA364457389

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52343970G>A (hg19) ; chr6:g.52479172G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479172G>A , CM000668.2:g.52479172G>A	GRCh38
NC_000006.11:g.52343970G>A , CM000668.1:g.52343970G>A	GRCh37
NC_000006.10:g.52451929G>A	NCBI36
NG_016760.1:g.63977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1414G>A MANE Select	ENSP00000360107.4:p.Val472Ile
ENST00000480623.6:c.1414G>A	ENSP00000434498.2:p.Val472Ile
ENST00000635760.1:c.1090G>A	ENSP00000489765.1:p.Val364Ile
ENST00000635812.1:c.*715G>A	ENSP00000490859.1:n.*715G>A
ENST00000635866.1:c.*1283G>A	ENSP00000489866.1:n.*1283G>A
ENST00000635911.1:n.2932G>A
ENST00000635984.1:c.1090G>A	ENSP00000489921.1:p.Val364Ile
ENST00000635996.1:c.1414G>A	ENSP00000490256.1:p.Val472Ile
ENST00000636107.1:c.1414G>A	ENSP00000489680.1:p.Val472Ile
ENST00000636311.1:n.1308G>A
ENST00000636343.1:c.1080G>A
ENST00000636379.1:c.1126G>A	ENSP00000490622.1:p.Val376Ile
ENST00000636398.1:c.1114G>A	ENSP00000489654.1:n.1114G>A
ENST00000636489.1:c.1357G>A	ENSP00000489998.1:p.Val453Ile
ENST00000636616.1:n.975G>A
ENST00000636702.1:c.1384G>A	ENSP00000489623.1:p.Val462Ile
ENST00000636954.1:c.1357G>A	ENSP00000489966.1:p.Val453Ile
ENST00000637089.1:c.1414G>A	ENSP00000489854.1:p.Val472Ile
ENST00000637121.1:n.1216G>A
ENST00000637263.1:c.1414G>A	ENSP00000489700.1:p.Val472Ile
ENST00000637340.1:n.3339G>A
ENST00000637353.1:c.1414G>A	ENSP00000490441.1:p.Val472Ile
ENST00000637602.1:c.*1115G>A	ENSP00000490074.1:n.*1115G>A
ENST00000637849.1:n.1478G>A
ENST00000637874.1:c.359G>A	ENSP00000490348.1:n.359G>A
ENST00000637892.1:n.1618G>A
ENST00000371068.9:c.1414G>A	ENSP00000360107.4:p.Val472Ile
ENST00000480623.5:c.*1834G>A	ENSP00000434498.1:n.*1834G>A
ENST00000538167.2:c.1357G>A	ENSP00000444521.1:p.Val453Ile
NM_001172420.1:c.1357G>A	NP_001165891.1:p.Val453Ile
NM_018100.3:c.1414G>A	NP_060570.2:p.Val472Ile
NR_033327.1:n.2886G>A
NM_018100.4:c.1414G>A MANE Select	NP_060570.2:p.Val472Ile
NM_001172420.2:c.1357G>A	NP_001165891.1:p.Val453Ile
NR_033327.2:n.2740G>A