Canonical Allele Identifier: CA1089029537

Gene: EFHC1

Linked Data

• dbSNP Id: rs1765637391
• gnomAD v3: 6-52479863-C-CT
• gnomAD v4: 6-52479863-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479863_52479864insT , CM000668.2:g.52479863_52479864insT	GRCh38
NC_000006.11:g.52344661_52344662insT , CM000668.1:g.52344661_52344662insT	GRCh37
NC_000006.10:g.52452620_52452621insT	NCBI36
NG_016760.1:g.64668_64669insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1640+76_1640+77insT MANE Select	ENSP00000360107.4:n.1640+76_1640+77insT
ENST00000480623.6:c.1640+76_1640+77insT	ENSP00000434498.2:n.1640+76_1640+77insT
ENST00000635760.1:c.1316+76_1316+77insT	ENSP00000489765.1:n.1316+76_1316+77insT
ENST00000635812.1:c.*941+76_*941+77insT	ENSP00000490859.1:n.*941+76_*941+77insT
ENST00000635866.1:c.*1509+76_*1509+77insT	ENSP00000489866.1:n.*1509+76_*1509+77insT
ENST00000635911.1:n.3158+76_3158+77insT
ENST00000635984.1:c.1316+76_1316+77insT	ENSP00000489921.1:n.1316+76_1316+77insT
ENST00000635996.1:c.1640+76_1640+77insT	ENSP00000490256.1:n.1640+76_1640+77insT
ENST00000636107.1:c.1640+76_1640+77insT	ENSP00000489680.1:n.1640+76_1640+77insT
ENST00000636311.1:n.1534+76_1534+77insT
ENST00000636343.1:c.1306+76_1306+77insT
ENST00000636379.1:c.1352+76_1352+77insT	ENSP00000490622.1:n.1352+76_1352+77insT
ENST00000636398.1:c.1340+76_1340+77insT	ENSP00000489654.1:n.1340+76_1340+77insT
ENST00000636489.1:c.1583+76_1583+77insT	ENSP00000489998.1:n.1583+76_1583+77insT
ENST00000636616.1:n.1201+76_1201+77insT
ENST00000636702.1:c.1610+76_1610+77insT	ENSP00000489623.1:n.1610+76_1610+77insT
ENST00000636954.1:c.1583+76_1583+77insT	ENSP00000489966.1:n.1583+76_1583+77insT
ENST00000637089.1:c.1640+76_1640+77insT	ENSP00000489854.1:n.1640+76_1640+77insT
ENST00000637121.1:n.1442+76_1442+77insT
ENST00000637263.1:c.*57_*58insT	ENSP00000489700.1:n.*57_*58insT
ENST00000637340.1:n.3565+76_3565+77insT
ENST00000637353.1:c.1640+76_1640+77insT	ENSP00000490441.1:n.1640+76_1640+77insT
ENST00000637602.1:c.*1341+76_*1341+77insT	ENSP00000490074.1:n.*1341+76_*1341+77insT
ENST00000637849.1:n.1704+76_1704+77insT
ENST00000637892.1:n.1844+76_1844+77insT
ENST00000371068.9:c.1640+76_1640+77insT	ENSP00000360107.4:n.1640+76_1640+77insT
ENST00000480623.5:c.*2060+76_*2060+77insT	ENSP00000434498.1:n.*2060+76_*2060+77insT
ENST00000538167.2:c.1583+76_1583+77insT	ENSP00000444521.1:n.1583+76_1583+77insT
NM_001172420.1:c.1583+76_1583+77insT	NP_001165891.1:n.1583+76_1583+77insT
NM_018100.3:c.1640+76_1640+77insT	NP_060570.2:n.1640+76_1640+77insT
NR_033327.1:n.3112+76_3112+77insT
NM_018100.4:c.1640+76_1640+77insT MANE Select	NP_060570.2:n.1640+76_1640+77insT
NM_001172420.2:c.1583+76_1583+77insT	NP_001165891.1:n.1583+76_1583+77insT
NR_033327.2:n.2966+76_2966+77insT