Canonical Allele Identifier: CA138992851

Gene: EFHC1

Linked Data

• dbSNP Id: rs372520849
• gnomAD v3: 6-52479694-T-A
• gnomAD v4: 6-52479694-T-A
• MyVariant Identifiers: chr6:g.52344492T>A (hg19) ; chr6:g.52479694T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479694T>A , CM000668.2:g.52479694T>A	GRCh38
NC_000006.11:g.52344492T>A , CM000668.1:g.52344492T>A	GRCh37
NC_000006.10:g.52452451T>A	NCBI36
NG_016760.1:g.64499T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1547T>A MANE Select	ENSP00000360107.4:p.Met516Lys
ENST00000480623.6:c.1547T>A	ENSP00000434498.2:p.Met516Lys
ENST00000635760.1:c.1223T>A	ENSP00000489765.1:p.Met408Lys
ENST00000635812.1:c.*848T>A	ENSP00000490859.1:n.*848T>A
ENST00000635866.1:c.*1416T>A	ENSP00000489866.1:n.*1416T>A
ENST00000635911.1:n.3065T>A
ENST00000635984.1:c.1223T>A	ENSP00000489921.1:p.Met408Lys
ENST00000635996.1:c.1547T>A	ENSP00000490256.1:p.Met516Lys
ENST00000636107.1:c.1547T>A	ENSP00000489680.1:p.Met516Lys
ENST00000636311.1:n.1441T>A
ENST00000636343.1:c.1213T>A
ENST00000636379.1:c.1259T>A	ENSP00000490622.1:p.Met420Lys
ENST00000636398.1:c.1247T>A	ENSP00000489654.1:n.1247T>A
ENST00000636489.1:c.1490T>A	ENSP00000489998.1:p.Met497Lys
ENST00000636616.1:n.1108T>A
ENST00000636702.1:c.1517T>A	ENSP00000489623.1:p.Met506Lys
ENST00000636954.1:c.1490T>A	ENSP00000489966.1:p.Met497Lys
ENST00000637089.1:c.1547T>A	ENSP00000489854.1:p.Met516Lys
ENST00000637121.1:n.1349T>A
ENST00000637263.1:c.1547T>A	ENSP00000489700.1:p.Met516Lys
ENST00000637340.1:n.3472T>A
ENST00000637353.1:c.1547T>A	ENSP00000490441.1:p.Met516Lys
ENST00000637602.1:c.*1248T>A	ENSP00000490074.1:n.*1248T>A
ENST00000637849.1:n.1611T>A
ENST00000637892.1:n.1751T>A
ENST00000371068.9:c.1547T>A	ENSP00000360107.4:p.Met516Lys
ENST00000480623.5:c.*1967T>A	ENSP00000434498.1:n.*1967T>A
ENST00000538167.2:c.1490T>A	ENSP00000444521.1:p.Met497Lys
NM_001172420.1:c.1490T>A	NP_001165891.1:p.Met497Lys
NM_018100.3:c.1547T>A	NP_060570.2:p.Met516Lys
NR_033327.1:n.3019T>A
NM_018100.4:c.1547T>A MANE Select	NP_060570.2:p.Met516Lys
NM_001172420.2:c.1490T>A	NP_001165891.1:p.Met497Lys
NR_033327.2:n.2873T>A