Canonical Allele Identifier: CA364458079

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 1011274
• ClinVar RCV Id: RCV002241898
• dbSNP Id: rs1765630267
• MyVariant Identifiers: chr6:g.52344494G>T (hg19) ; chr6:g.52479696G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479696G>T , CM000668.2:g.52479696G>T	GRCh38
NC_000006.11:g.52344494G>T , CM000668.1:g.52344494G>T	GRCh37
NC_000006.10:g.52452453G>T	NCBI36
NG_016760.1:g.64501G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1549G>T MANE Select	ENSP00000360107.4:p.Glu517Ter
ENST00000480623.6:c.1549G>T	ENSP00000434498.2:p.Glu517Ter
ENST00000635760.1:c.1225G>T	ENSP00000489765.1:p.Glu409Ter
ENST00000635812.1:c.*850G>T	ENSP00000490859.1:n.*850G>T
ENST00000635866.1:c.*1418G>T	ENSP00000489866.1:n.*1418G>T
ENST00000635911.1:n.3067G>T
ENST00000635984.1:c.1225G>T	ENSP00000489921.1:p.Glu409Ter
ENST00000635996.1:c.1549G>T	ENSP00000490256.1:p.Glu517Ter
ENST00000636107.1:c.1549G>T	ENSP00000489680.1:p.Glu517Ter
ENST00000636311.1:n.1443G>T
ENST00000636343.1:c.1215G>T
ENST00000636379.1:c.1261G>T	ENSP00000490622.1:p.Glu421Ter
ENST00000636398.1:c.1249G>T	ENSP00000489654.1:n.1249G>T
ENST00000636489.1:c.1492G>T	ENSP00000489998.1:p.Glu498Ter
ENST00000636616.1:n.1110G>T
ENST00000636702.1:c.1519G>T	ENSP00000489623.1:p.Glu507Ter
ENST00000636954.1:c.1492G>T	ENSP00000489966.1:p.Glu498Ter
ENST00000637089.1:c.1549G>T	ENSP00000489854.1:p.Glu517Ter
ENST00000637121.1:n.1351G>T
ENST00000637263.1:c.1549G>T	ENSP00000489700.1:p.Glu517Ter
ENST00000637340.1:n.3474G>T
ENST00000637353.1:c.1549G>T	ENSP00000490441.1:p.Glu517Ter
ENST00000637602.1:c.*1250G>T	ENSP00000490074.1:n.*1250G>T
ENST00000637849.1:n.1613G>T
ENST00000637892.1:n.1753G>T
ENST00000371068.9:c.1549G>T	ENSP00000360107.4:p.Glu517Ter
ENST00000480623.5:c.*1969G>T	ENSP00000434498.1:n.*1969G>T
ENST00000538167.2:c.1492G>T	ENSP00000444521.1:p.Glu498Ter
NM_001172420.1:c.1492G>T	NP_001165891.1:p.Glu498Ter
NM_018100.3:c.1549G>T	NP_060570.2:p.Glu517Ter
NR_033327.1:n.3021G>T
NM_018100.4:c.1549G>T MANE Select	NP_060570.2:p.Glu517Ter
NM_001172420.2:c.1492G>T	NP_001165891.1:p.Glu498Ter
NR_033327.2:n.2875G>T