Canonical Allele Identifier: CA115320

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 2064
• ClinVar RCV Id: RCV000002145 ; RCV000178317 ; RCV000513761 ; RCV001838977 ; RCV003764516
• dbSNP Id: rs137852776
• ExAC: 6:52317597 T / C
• gnomAD v2: 6-52317597-T-C
• gnomAD v3: 6-52452799-T-C
• gnomAD v4: 6-52452799-T-C
• MyVariant Identifiers: chr6:g.52317597T>C (hg19) ; chr6:g.52452799T>C (hg38)
• PubMed: PMID:12439895 ; PMID:15258581 ; PMID:17159113 ; PMID:17634063 ; PMID:18823326 ; PMID:22226147 ; PMID:22926142 ; PMID:23527921 ; PMID:24965021 ; PMID:25489633 ; PMID:25625532

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452799T>C , CM000668.2:g.52452799T>C	GRCh38
NC_000006.11:g.52317597T>C , CM000668.1:g.52317597T>C	GRCh37
NC_000006.10:g.52425556T>C	NCBI36
NG_016760.1:g.37604T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.685T>C MANE Select	ENSP00000360107.4:p.Phe229Leu
ENST00000480623.6:c.685T>C	ENSP00000434498.2:p.Phe229Leu
ENST00000635760.1:c.361T>C	ENSP00000489765.1:p.Phe121Leu
ENST00000635812.1:c.685T>C	ENSP00000490859.1:p.Phe229Leu
ENST00000635866.1:c.*554T>C	ENSP00000489866.1:n.*554T>C
ENST00000635911.1:n.946T>C
ENST00000635984.1:c.361T>C	ENSP00000489921.1:p.Phe121Leu
ENST00000635996.1:c.685T>C	ENSP00000490256.1:p.Phe229Leu
ENST00000636107.1:c.685T>C	ENSP00000489680.1:p.Phe229Leu
ENST00000636253.1:n.339T>C
ENST00000636311.1:n.579T>C
ENST00000636343.1:c.351T>C
ENST00000636379.1:c.397T>C	ENSP00000490622.1:p.Phe133Leu
ENST00000636398.1:c.352T>C	ENSP00000489654.1:p.Phe118Leu
ENST00000636489.1:c.628T>C	ENSP00000489998.1:p.Phe210Leu
ENST00000636702.1:c.655T>C	ENSP00000489623.1:p.Phe219Leu
ENST00000636954.1:c.628T>C	ENSP00000489966.1:p.Phe210Leu
ENST00000637089.1:c.685T>C	ENSP00000489854.1:p.Phe229Leu
ENST00000637200.1:c.*701T>C	ENSP00000490567.1:n.*701T>C
ENST00000637263.1:c.685T>C	ENSP00000489700.1:p.Phe229Leu
ENST00000637340.1:n.1353T>C
ENST00000637353.1:c.685T>C	ENSP00000490441.1:p.Phe229Leu
ENST00000637602.1:c.*386T>C	ENSP00000490074.1:n.*386T>C
ENST00000637849.1:n.749T>C
ENST00000637892.1:n.889T>C
ENST00000371068.9:c.685T>C	ENSP00000360107.4:p.Phe229Leu
ENST00000480623.5:c.685T>C	ENSP00000434498.1:p.Phe229Leu
ENST00000538167.2:c.628T>C	ENSP00000444521.1:p.Phe210Leu
NM_001172420.1:c.628T>C	NP_001165891.1:p.Phe210Leu
NM_018100.3:c.685T>C	NP_060570.2:p.Phe229Leu
NR_033327.1:n.900T>C
NM_018100.4:c.685T>C MANE Select	NP_060570.2:p.Phe229Leu
NM_001172420.2:c.628T>C	NP_001165891.1:p.Phe210Leu
NR_033327.2:n.754T>C