Canonical Allele Identifier: CA364458142

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 1055947
• ClinVar RCV Id: RCV003771107
• dbSNP Id: rs1433410236
• MyVariant Identifiers: chr6:g.52344519C>T (hg19) ; chr6:g.52479721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479721C>T , CM000668.2:g.52479721C>T	GRCh38
NC_000006.11:g.52344519C>T , CM000668.1:g.52344519C>T	GRCh37
NC_000006.10:g.52452478C>T	NCBI36
NG_016760.1:g.64526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1574C>T MANE Select	ENSP00000360107.4:p.Pro525Leu
ENST00000480623.6:c.1574C>T	ENSP00000434498.2:p.Pro525Leu
ENST00000635760.1:c.1250C>T	ENSP00000489765.1:p.Pro417Leu
ENST00000635812.1:c.*875C>T	ENSP00000490859.1:n.*875C>T
ENST00000635866.1:c.*1443C>T	ENSP00000489866.1:n.*1443C>T
ENST00000635911.1:n.3092C>T
ENST00000635984.1:c.1250C>T	ENSP00000489921.1:p.Pro417Leu
ENST00000635996.1:c.1574C>T	ENSP00000490256.1:p.Pro525Leu
ENST00000636107.1:c.1574C>T	ENSP00000489680.1:p.Pro525Leu
ENST00000636311.1:n.1468C>T
ENST00000636343.1:c.1240C>T
ENST00000636379.1:c.1286C>T	ENSP00000490622.1:p.Pro429Leu
ENST00000636398.1:c.1274C>T	ENSP00000489654.1:n.1274C>T
ENST00000636489.1:c.1517C>T	ENSP00000489998.1:p.Pro506Leu
ENST00000636616.1:n.1135C>T
ENST00000636702.1:c.1544C>T	ENSP00000489623.1:p.Pro515Leu
ENST00000636954.1:c.1517C>T	ENSP00000489966.1:p.Pro506Leu
ENST00000637089.1:c.1574C>T	ENSP00000489854.1:p.Pro525Leu
ENST00000637121.1:n.1376C>T
ENST00000637263.1:c.1574C>T	ENSP00000489700.1:p.Pro525Leu
ENST00000637340.1:n.3499C>T
ENST00000637353.1:c.1574C>T	ENSP00000490441.1:p.Pro525Leu
ENST00000637602.1:c.*1275C>T	ENSP00000490074.1:n.*1275C>T
ENST00000637849.1:n.1638C>T
ENST00000637892.1:n.1778C>T
ENST00000371068.9:c.1574C>T	ENSP00000360107.4:p.Pro525Leu
ENST00000480623.5:c.*1994C>T	ENSP00000434498.1:n.*1994C>T
ENST00000538167.2:c.1517C>T	ENSP00000444521.1:p.Pro506Leu
NM_001172420.1:c.1517C>T	NP_001165891.1:p.Pro506Leu
NM_018100.3:c.1574C>T	NP_060570.2:p.Pro525Leu
NR_033327.1:n.3046C>T
NM_018100.4:c.1574C>T MANE Select	NP_060570.2:p.Pro525Leu
NM_001172420.2:c.1517C>T	NP_001165891.1:p.Pro506Leu
NR_033327.2:n.2900C>T