Canonical Allele Identifier: CA364457317

Gene: EFHC1

Linked Data

• dbSNP Id: rs747838806
• MyVariant Identifiers: chr6:g.52343935G>T (hg19) ; chr6:g.52479137G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479137G>T , CM000668.2:g.52479137G>T	GRCh38
NC_000006.11:g.52343935G>T , CM000668.1:g.52343935G>T	GRCh37
NC_000006.10:g.52451894G>T	NCBI36
NG_016760.1:g.63942G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1379G>T MANE Select	ENSP00000360107.4:p.Gly460Val
ENST00000480623.6:c.1379G>T	ENSP00000434498.2:p.Gly460Val
ENST00000635760.1:c.1055G>T	ENSP00000489765.1:p.Gly352Val
ENST00000635812.1:c.*680G>T	ENSP00000490859.1:n.*680G>T
ENST00000635866.1:c.*1248G>T	ENSP00000489866.1:n.*1248G>T
ENST00000635911.1:n.2897G>T
ENST00000635984.1:c.1055G>T	ENSP00000489921.1:p.Gly352Val
ENST00000635996.1:c.1379G>T	ENSP00000490256.1:p.Gly460Val
ENST00000636107.1:c.1379G>T	ENSP00000489680.1:p.Gly460Val
ENST00000636311.1:n.1273G>T
ENST00000636343.1:c.1045G>T
ENST00000636379.1:c.1091G>T	ENSP00000490622.1:p.Gly364Val
ENST00000636398.1:c.1079G>T	ENSP00000489654.1:n.1079G>T
ENST00000636489.1:c.1322G>T	ENSP00000489998.1:p.Gly441Val
ENST00000636616.1:n.940G>T
ENST00000636702.1:c.1349G>T	ENSP00000489623.1:p.Gly450Val
ENST00000636954.1:c.1322G>T	ENSP00000489966.1:p.Gly441Val
ENST00000637089.1:c.1379G>T	ENSP00000489854.1:p.Gly460Val
ENST00000637121.1:n.1181G>T
ENST00000637263.1:c.1379G>T	ENSP00000489700.1:p.Gly460Val
ENST00000637340.1:n.3304G>T
ENST00000637353.1:c.1379G>T	ENSP00000490441.1:p.Gly460Val
ENST00000637602.1:c.*1080G>T	ENSP00000490074.1:n.*1080G>T
ENST00000637849.1:n.1443G>T
ENST00000637874.1:c.324G>T	ENSP00000490348.1:n.324G>T
ENST00000637892.1:n.1583G>T
ENST00000371068.9:c.1379G>T	ENSP00000360107.4:p.Gly460Val
ENST00000480623.5:c.*1799G>T	ENSP00000434498.1:n.*1799G>T
ENST00000538167.2:c.1322G>T	ENSP00000444521.1:p.Gly441Val
NM_001172420.1:c.1322G>T	NP_001165891.1:p.Gly441Val
NM_018100.3:c.1379G>T	NP_060570.2:p.Gly460Val
NR_033327.1:n.2851G>T
NM_018100.4:c.1379G>T MANE Select	NP_060570.2:p.Gly460Val
NM_001172420.2:c.1322G>T	NP_001165891.1:p.Gly441Val
NR_033327.2:n.2705G>T