Canonical Allele Identifier: CA364457288

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479124-G-A
• MyVariant Identifiers: chr6:g.52343922G>A (hg19) ; chr6:g.52479124G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479124G>A , CM000668.2:g.52479124G>A	GRCh38
NC_000006.11:g.52343922G>A , CM000668.1:g.52343922G>A	GRCh37
NC_000006.10:g.52451881G>A	NCBI36
NG_016760.1:g.63929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1366G>A MANE Select	ENSP00000360107.4:p.Val456Ile
ENST00000480623.6:c.1366G>A	ENSP00000434498.2:p.Val456Ile
ENST00000635760.1:c.1042G>A	ENSP00000489765.1:p.Val348Ile
ENST00000635812.1:c.*667G>A	ENSP00000490859.1:n.*667G>A
ENST00000635866.1:c.*1235G>A	ENSP00000489866.1:n.*1235G>A
ENST00000635911.1:n.2884G>A
ENST00000635984.1:c.1042G>A	ENSP00000489921.1:p.Val348Ile
ENST00000635996.1:c.1366G>A	ENSP00000490256.1:p.Val456Ile
ENST00000636107.1:c.1366G>A	ENSP00000489680.1:p.Val456Ile
ENST00000636311.1:n.1260G>A
ENST00000636343.1:c.1032G>A
ENST00000636379.1:c.1078G>A	ENSP00000490622.1:p.Val360Ile
ENST00000636398.1:c.1066G>A	ENSP00000489654.1:n.1066G>A
ENST00000636489.1:c.1309G>A	ENSP00000489998.1:p.Val437Ile
ENST00000636616.1:n.927G>A
ENST00000636702.1:c.1336G>A	ENSP00000489623.1:p.Val446Ile
ENST00000636954.1:c.1309G>A	ENSP00000489966.1:p.Val437Ile
ENST00000637089.1:c.1366G>A	ENSP00000489854.1:p.Val456Ile
ENST00000637121.1:n.1168G>A
ENST00000637263.1:c.1366G>A	ENSP00000489700.1:p.Val456Ile
ENST00000637340.1:n.3291G>A
ENST00000637353.1:c.1366G>A	ENSP00000490441.1:p.Val456Ile
ENST00000637602.1:c.*1067G>A	ENSP00000490074.1:n.*1067G>A
ENST00000637849.1:n.1430G>A
ENST00000637874.1:c.311G>A	ENSP00000490348.1:n.311G>A
ENST00000637892.1:n.1570G>A
ENST00000371068.9:c.1366G>A	ENSP00000360107.4:p.Val456Ile
ENST00000480623.5:c.*1786G>A	ENSP00000434498.1:n.*1786G>A
ENST00000538167.2:c.1309G>A	ENSP00000444521.1:p.Val437Ile
NM_001172420.1:c.1309G>A	NP_001165891.1:p.Val437Ile
NM_018100.3:c.1366G>A	NP_060570.2:p.Val456Ile
NR_033327.1:n.2838G>A
NM_018100.4:c.1366G>A MANE Select	NP_060570.2:p.Val456Ile
NM_001172420.2:c.1309G>A	NP_001165891.1:p.Val437Ile
NR_033327.2:n.2692G>A