Canonical Allele Identifier: CA364455592

Gene: EFHC1

Linked Data

• dbSNP Id: rs1298751121
• gnomAD v3: 6-52464978-T-A
• gnomAD v4: 6-52464978-T-A
• MyVariant Identifiers: chr6:g.52329776T>A (hg19) ; chr6:g.52464978T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464978T>A , CM000668.2:g.52464978T>A	GRCh38
NC_000006.11:g.52329776T>A , CM000668.1:g.52329776T>A	GRCh37
NC_000006.10:g.52437735T>A	NCBI36
NG_016760.1:g.49783T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1000T>A MANE Select	ENSP00000360107.4:p.Ser334Thr
ENST00000480623.6:c.1000T>A	ENSP00000434498.2:p.Ser334Thr
ENST00000635760.1:c.676T>A	ENSP00000489765.1:p.Ser226Thr
ENST00000635812.1:c.*301T>A	ENSP00000490859.1:n.*301T>A
ENST00000635866.1:c.*869T>A	ENSP00000489866.1:n.*869T>A
ENST00000635911.1:n.2518T>A
ENST00000635984.1:c.676T>A	ENSP00000489921.1:p.Ser226Thr
ENST00000635996.1:c.1000T>A	ENSP00000490256.1:p.Ser334Thr
ENST00000636107.1:c.1000T>A	ENSP00000489680.1:p.Ser334Thr
ENST00000636311.1:n.894T>A
ENST00000636343.1:c.666T>A
ENST00000636379.1:c.712T>A	ENSP00000490622.1:p.Ser238Thr
ENST00000636398.1:c.700T>A	ENSP00000489654.1:n.700T>A
ENST00000636489.1:c.943T>A	ENSP00000489998.1:p.Ser315Thr
ENST00000636616.1:n.616T>A
ENST00000636702.1:c.970T>A	ENSP00000489623.1:p.Ser324Thr
ENST00000636954.1:c.943T>A	ENSP00000489966.1:p.Ser315Thr
ENST00000637089.1:c.1000T>A	ENSP00000489854.1:p.Ser334Thr
ENST00000637263.1:c.1000T>A	ENSP00000489700.1:p.Ser334Thr
ENST00000637340.1:n.2925T>A
ENST00000637353.1:c.1000T>A	ENSP00000490441.1:p.Ser334Thr
ENST00000637602.1:c.*701T>A	ENSP00000490074.1:n.*701T>A
ENST00000637849.1:n.1064T>A
ENST00000637874.1:c.83-4355T>A	ENSP00000490348.1:n.83-4355T>A
ENST00000637892.1:n.1204T>A
ENST00000371068.9:c.1000T>A	ENSP00000360107.4:p.Ser334Thr
ENST00000480623.5:c.*1420T>A	ENSP00000434498.1:n.*1420T>A
ENST00000538167.2:c.943T>A	ENSP00000444521.1:p.Ser315Thr
NM_001172420.1:c.943T>A	NP_001165891.1:p.Ser315Thr
NM_018100.3:c.1000T>A	NP_060570.2:p.Ser334Thr
NR_033327.1:n.2472T>A
NM_018100.4:c.1000T>A MANE Select	NP_060570.2:p.Ser334Thr
NM_001172420.2:c.943T>A	NP_001165891.1:p.Ser315Thr
NR_033327.2:n.2326T>A