Canonical Allele Identifier: CA138977104

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 659026
• ClinVar RCV Id: RCV002235331
• dbSNP Id: rs201379297
• gnomAD v2: 6-52317549-A-G
• gnomAD v3: 6-52452751-A-G
• gnomAD v4: 6-52452751-A-G
• MyVariant Identifiers: chr6:g.52317549A>G (hg19) ; chr6:g.52452751A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452751A>G , CM000668.2:g.52452751A>G	GRCh38
NC_000006.11:g.52317549A>G , CM000668.1:g.52317549A>G	GRCh37
NC_000006.10:g.52425508A>G	NCBI36
NG_016760.1:g.37556A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.637A>G MANE Select	ENSP00000360107.4:p.Thr213Ala
ENST00000480623.6:c.637A>G	ENSP00000434498.2:p.Thr213Ala
ENST00000635760.1:c.313A>G	ENSP00000489765.1:p.Thr105Ala
ENST00000635812.1:c.637A>G	ENSP00000490859.1:p.Thr213Ala
ENST00000635866.1:c.*506A>G	ENSP00000489866.1:n.*506A>G
ENST00000635911.1:n.898A>G
ENST00000635984.1:c.313A>G	ENSP00000489921.1:p.Thr105Ala
ENST00000635996.1:c.637A>G	ENSP00000490256.1:p.Thr213Ala
ENST00000636107.1:c.637A>G	ENSP00000489680.1:p.Thr213Ala
ENST00000636253.1:n.291A>G
ENST00000636311.1:n.531A>G
ENST00000636343.1:c.303A>G
ENST00000636379.1:c.349A>G	ENSP00000490622.1:p.Thr117Ala
ENST00000636398.1:c.304A>G	ENSP00000489654.1:p.Thr102Ala
ENST00000636489.1:c.580A>G	ENSP00000489998.1:p.Thr194Ala
ENST00000636702.1:c.607A>G	ENSP00000489623.1:p.Thr203Ala
ENST00000636954.1:c.580A>G	ENSP00000489966.1:p.Thr194Ala
ENST00000637089.1:c.637A>G	ENSP00000489854.1:p.Thr213Ala
ENST00000637200.1:c.*653A>G	ENSP00000490567.1:n.*653A>G
ENST00000637263.1:c.637A>G	ENSP00000489700.1:p.Thr213Ala
ENST00000637340.1:n.1305A>G
ENST00000637353.1:c.637A>G	ENSP00000490441.1:p.Thr213Ala
ENST00000637602.1:c.*338A>G	ENSP00000490074.1:n.*338A>G
ENST00000637849.1:n.701A>G
ENST00000637892.1:n.841A>G
ENST00000638075.1:c.19A>G	ENSP00000490711.1:p.Thr7Ala
ENST00000371068.9:c.637A>G	ENSP00000360107.4:p.Thr213Ala
ENST00000480623.5:c.637A>G	ENSP00000434498.1:p.Thr213Ala
ENST00000538167.2:c.580A>G	ENSP00000444521.1:p.Thr194Ala
NM_001172420.1:c.580A>G	NP_001165891.1:p.Thr194Ala
NM_018100.3:c.637A>G	NP_060570.2:p.Thr213Ala
NR_033327.1:n.852A>G
NM_018100.4:c.637A>G MANE Select	NP_060570.2:p.Thr213Ala
NM_001172420.2:c.580A>G	NP_001165891.1:p.Thr194Ala
NR_033327.2:n.706A>G