Canonical Allele Identifier: CA314396

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 205379
• ClinVar RCV Id: RCV000187336 ; RCV000393652 ; RCV003765168
• dbSNP Id: rs773385237
• ExAC: 6:52344502 C / T
• gnomAD v2: 6-52344502-C-T
• gnomAD v3: 6-52479704-C-T
• gnomAD v4: 6-52479704-C-T
• COSMIC: COSM3628511
• MyVariant Identifiers: chr6:g.52344502C>T (hg19) ; chr6:g.52479704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479704C>T , CM000668.2:g.52479704C>T	GRCh38
NC_000006.11:g.52344502C>T , CM000668.1:g.52344502C>T	GRCh37
NC_000006.10:g.52452461C>T	NCBI36
NG_016760.1:g.64509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1557C>T MANE Select	ENSP00000360107.4:p.Asn519=
ENST00000480623.6:c.1557C>T	ENSP00000434498.2:p.Asn519=
ENST00000635760.1:c.1233C>T	ENSP00000489765.1:p.Asn411=
ENST00000635812.1:c.*858C>T	ENSP00000490859.1:n.*858C>T
ENST00000635866.1:c.*1426C>T	ENSP00000489866.1:n.*1426C>T
ENST00000635911.1:n.3075C>T
ENST00000635984.1:c.1233C>T	ENSP00000489921.1:p.Asn411=
ENST00000635996.1:c.1557C>T	ENSP00000490256.1:p.Asn519=
ENST00000636107.1:c.1557C>T	ENSP00000489680.1:p.Asn519=
ENST00000636311.1:n.1451C>T
ENST00000636343.1:c.1223C>T
ENST00000636379.1:c.1269C>T	ENSP00000490622.1:p.Asn423=
ENST00000636398.1:c.1257C>T	ENSP00000489654.1:n.1257C>T
ENST00000636489.1:c.1500C>T	ENSP00000489998.1:p.Asn500=
ENST00000636616.1:n.1118C>T
ENST00000636702.1:c.1527C>T	ENSP00000489623.1:p.Asn509=
ENST00000636954.1:c.1500C>T	ENSP00000489966.1:p.Asn500=
ENST00000637089.1:c.1557C>T	ENSP00000489854.1:p.Asn519=
ENST00000637121.1:n.1359C>T
ENST00000637263.1:c.1557C>T	ENSP00000489700.1:p.Asn519=
ENST00000637340.1:n.3482C>T
ENST00000637353.1:c.1557C>T	ENSP00000490441.1:p.Asn519=
ENST00000637602.1:c.*1258C>T	ENSP00000490074.1:n.*1258C>T
ENST00000637849.1:n.1621C>T
ENST00000637892.1:n.1761C>T
ENST00000371068.9:c.1557C>T	ENSP00000360107.4:p.Asn519=
ENST00000480623.5:c.*1977C>T	ENSP00000434498.1:n.*1977C>T
ENST00000538167.2:c.1500C>T	ENSP00000444521.1:p.Asn500=
NM_001172420.1:c.1500C>T	NP_001165891.1:p.Asn500=
NM_018100.3:c.1557C>T	NP_060570.2:p.Asn519=
NR_033327.1:n.3029C>T
NM_018100.4:c.1557C>T MANE Select	NP_060570.2:p.Asn519=
NM_001172420.2:c.1500C>T	NP_001165891.1:p.Asn500=
NR_033327.2:n.2883C>T