Canonical Allele Identifier: CA138992853

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 644582
• ClinVar RCV Id: RCV003768495
• dbSNP Id: rs973650043
• gnomAD v2: 6-52344493-G-A
• gnomAD v3: 6-52479695-G-A
• gnomAD v4: 6-52479695-G-A
• MyVariant Identifiers: chr6:g.52344493G>A (hg19) ; chr6:g.52479695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479695G>A , CM000668.2:g.52479695G>A	GRCh38
NC_000006.11:g.52344493G>A , CM000668.1:g.52344493G>A	GRCh37
NC_000006.10:g.52452452G>A	NCBI36
NG_016760.1:g.64500G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1548G>A MANE Select	ENSP00000360107.4:p.Met516Ile
ENST00000480623.6:c.1548G>A	ENSP00000434498.2:p.Met516Ile
ENST00000635760.1:c.1224G>A	ENSP00000489765.1:p.Met408Ile
ENST00000635812.1:c.*849G>A	ENSP00000490859.1:n.*849G>A
ENST00000635866.1:c.*1417G>A	ENSP00000489866.1:n.*1417G>A
ENST00000635911.1:n.3066G>A
ENST00000635984.1:c.1224G>A	ENSP00000489921.1:p.Met408Ile
ENST00000635996.1:c.1548G>A	ENSP00000490256.1:p.Met516Ile
ENST00000636107.1:c.1548G>A	ENSP00000489680.1:p.Met516Ile
ENST00000636311.1:n.1442G>A
ENST00000636343.1:c.1214G>A
ENST00000636379.1:c.1260G>A	ENSP00000490622.1:p.Met420Ile
ENST00000636398.1:c.1248G>A	ENSP00000489654.1:n.1248G>A
ENST00000636489.1:c.1491G>A	ENSP00000489998.1:p.Met497Ile
ENST00000636616.1:n.1109G>A
ENST00000636702.1:c.1518G>A	ENSP00000489623.1:p.Met506Ile
ENST00000636954.1:c.1491G>A	ENSP00000489966.1:p.Met497Ile
ENST00000637089.1:c.1548G>A	ENSP00000489854.1:p.Met516Ile
ENST00000637121.1:n.1350G>A
ENST00000637263.1:c.1548G>A	ENSP00000489700.1:p.Met516Ile
ENST00000637340.1:n.3473G>A
ENST00000637353.1:c.1548G>A	ENSP00000490441.1:p.Met516Ile
ENST00000637602.1:c.*1249G>A	ENSP00000490074.1:n.*1249G>A
ENST00000637849.1:n.1612G>A
ENST00000637892.1:n.1752G>A
ENST00000371068.9:c.1548G>A	ENSP00000360107.4:p.Met516Ile
ENST00000480623.5:c.*1968G>A	ENSP00000434498.1:n.*1968G>A
ENST00000538167.2:c.1491G>A	ENSP00000444521.1:p.Met497Ile
NM_001172420.1:c.1491G>A	NP_001165891.1:p.Met497Ile
NM_018100.3:c.1548G>A	NP_060570.2:p.Met516Ile
NR_033327.1:n.3020G>A
NM_018100.4:c.1548G>A MANE Select	NP_060570.2:p.Met516Ile
NM_001172420.2:c.1491G>A	NP_001165891.1:p.Met497Ile
NR_033327.2:n.2874G>A