Canonical Allele Identifier: CA364457864

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52438406A>G , CM000668.2:g.52438406A>G	GRCh38
NC_000006.11:g.52303204A>G , CM000668.1:g.52303204A>G	GRCh37
NC_000006.10:g.52411163A>G	NCBI36
NG_016760.1:g.23211A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018100.4:c.388A>G MANE Select	NP_060570.2:p.Ser130Gly
ENST00000371068.11:c.388A>G MANE Select	ENSP00000360107.4:p.Ser130Gly
NM_001172420.1:c.331A>G	NP_001165891.1:p.Ser111Gly
NM_001172420.2:c.331A>G	NP_001165891.1:p.Ser111Gly
NM_018100.3:c.388A>G	NP_060570.2:p.Ser130Gly
NR_033327.1:n.603A>G
NR_033327.2:n.457A>G
ENST00000371068.9:c.388A>G	ENSP00000360107.4:p.Ser130Gly
ENST00000480623.5:c.388A>G	ENSP00000434498.1:p.Ser130Gly
ENST00000480623.6:c.388A>G	ENSP00000434498.2:p.Ser130Gly
ENST00000491749.1:n.747A>G
ENST00000538167.2:c.331A>G	ENSP00000444521.1:p.Ser111Gly
ENST00000635760.1:c.64A>G	ENSP00000489765.1:p.Ser22Gly
ENST00000635812.1:c.388A>G	ENSP00000490859.1:p.Ser130Gly
ENST00000635866.1:c.*257A>G	ENSP00000489866.1:n.*257A>G
ENST00000635911.1:n.649A>G
ENST00000635984.1:c.64A>G	ENSP00000489921.1:p.Ser22Gly
ENST00000635996.1:c.388A>G	ENSP00000490256.1:p.Ser130Gly
ENST00000636107.1:c.388A>G	ENSP00000489680.1:p.Ser130Gly
ENST00000636253.1:n.42A>G
ENST00000636311.1:n.419A>G
ENST00000636343.1:c.54A>G
ENST00000636379.1:c.285+14239A>G	ENSP00000490622.1:n.285+14239A>G
ENST00000636398.1:c.55A>G	ENSP00000489654.1:p.Ser19Gly
ENST00000636489.1:c.331A>G	ENSP00000489998.1:p.Ser111Gly
ENST00000636566.1:c.64A>G	ENSP00000490602.1:p.Ser22Gly
ENST00000636702.1:c.358A>G	ENSP00000489623.1:p.Ser120Gly
ENST00000636954.1:c.331A>G	ENSP00000489966.1:p.Ser111Gly
ENST00000637089.1:c.388A>G	ENSP00000489854.1:p.Ser130Gly
ENST00000637200.1:c.*404A>G	ENSP00000490567.1:n.*404A>G
ENST00000637263.1:c.388A>G	ENSP00000489700.1:p.Ser130Gly
ENST00000637315.1:c.370A>G	ENSP00000489708.1:p.Ser124Gly
ENST00000637340.1:n.1056A>G
ENST00000637353.1:c.388A>G	ENSP00000490441.1:p.Ser130Gly
ENST00000637602.1:c.*89A>G	ENSP00000490074.1:n.*89A>G
ENST00000637849.1:n.452A>G
ENST00000637892.1:n.592A>G
ENST00000638075.1:c.-183+31A>G	ENSP00000490711.1:n.-183+31A>G