Canonical Allele Identifier: CA364457232
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52479114T>G , CM000668.2:g.52479114T>G GRCh38
NC_000006.11:g.52343912T>G , CM000668.1:g.52343912T>G GRCh37
NC_000006.10:g.52451871T>G NCBI36
NG_016760.1:g.63919T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1356T>G MANE Select ENSP00000360107.4:p.Phe452Leu
ENST00000480623.6:c.1356T>G ENSP00000434498.2:p.Phe452Leu
ENST00000635760.1:c.1032T>G ENSP00000489765.1:p.Phe344Leu
ENST00000635812.1:c.*657T>G ENSP00000490859.1:n.*657T>G
ENST00000635866.1:c.*1225T>G ENSP00000489866.1:n.*1225T>G
ENST00000635911.1:n.2874T>G
ENST00000635984.1:c.1032T>G ENSP00000489921.1:p.Phe344Leu
ENST00000635996.1:c.1356T>G ENSP00000490256.1:p.Phe452Leu
ENST00000636107.1:c.1356T>G ENSP00000489680.1:p.Phe452Leu
ENST00000636311.1:n.1250T>G
ENST00000636343.1:c.1022T>G
ENST00000636379.1:c.1068T>G ENSP00000490622.1:p.Phe356Leu
ENST00000636398.1:c.1056T>G ENSP00000489654.1:n.1056T>G
ENST00000636489.1:c.1299T>G ENSP00000489998.1:p.Phe433Leu
ENST00000636616.1:n.917T>G
ENST00000636702.1:c.1326T>G ENSP00000489623.1:p.Phe442Leu
ENST00000636954.1:c.1299T>G ENSP00000489966.1:p.Phe433Leu
ENST00000637089.1:c.1356T>G ENSP00000489854.1:p.Phe452Leu
ENST00000637121.1:n.1158T>G
ENST00000637263.1:c.1356T>G ENSP00000489700.1:p.Phe452Leu
ENST00000637340.1:n.3281T>G
ENST00000637353.1:c.1356T>G ENSP00000490441.1:p.Phe452Leu
ENST00000637602.1:c.*1057T>G ENSP00000490074.1:n.*1057T>G
ENST00000637849.1:n.1420T>G
ENST00000637874.1:c.301T>G ENSP00000490348.1:n.301T>G
ENST00000637892.1:n.1560T>G
ENST00000371068.9:c.1356T>G ENSP00000360107.4:p.Phe452Leu
ENST00000480623.5:c.*1776T>G ENSP00000434498.1:n.*1776T>G
ENST00000538167.2:c.1299T>G ENSP00000444521.1:p.Phe433Leu
NM_001172420.1:c.1299T>G NP_001165891.1:p.Phe433Leu
NM_018100.3:c.1356T>G NP_060570.2:p.Phe452Leu
NR_033327.1:n.2828T>G
NM_018100.4:c.1356T>G MANE Select NP_060570.2:p.Phe452Leu
NM_001172420.2:c.1299T>G NP_001165891.1:p.Phe433Leu
NR_033327.2:n.2682T>G