Canonical Allele Identifier: CA450427309

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52343882C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479084C>T , CM000668.2:g.52479084C>T	GRCh38
NC_000006.11:g.52343882C>T , CM000668.1:g.52343882C>T	GRCh37
NC_000006.10:g.52451841C>T	NCBI36
NG_016760.1:g.63889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1326C>T MANE Select	ENSP00000360107.4:p.Tyr442=
ENST00000480623.6:c.1326C>T	ENSP00000434498.2:p.Tyr442=
ENST00000635760.1:c.1002C>T	ENSP00000489765.1:p.Tyr334=
ENST00000635812.1:c.*627C>T	ENSP00000490859.1:n.*627C>T
ENST00000635866.1:c.*1195C>T	ENSP00000489866.1:n.*1195C>T
ENST00000635911.1:n.2844C>T
ENST00000635984.1:c.1002C>T	ENSP00000489921.1:p.Tyr334=
ENST00000635996.1:c.1326C>T	ENSP00000490256.1:p.Tyr442=
ENST00000636107.1:c.1326C>T	ENSP00000489680.1:p.Tyr442=
ENST00000636311.1:n.1220C>T
ENST00000636343.1:c.992C>T
ENST00000636379.1:c.1038C>T	ENSP00000490622.1:p.Tyr346=
ENST00000636398.1:c.1026C>T	ENSP00000489654.1:n.1026C>T
ENST00000636489.1:c.1269C>T	ENSP00000489998.1:p.Tyr423=
ENST00000636616.1:n.895-8C>T
ENST00000636702.1:c.1296C>T	ENSP00000489623.1:p.Tyr432=
ENST00000636954.1:c.1269C>T	ENSP00000489966.1:p.Tyr423=
ENST00000637089.1:c.1326C>T	ENSP00000489854.1:p.Tyr442=
ENST00000637121.1:n.1128C>T
ENST00000637263.1:c.1326C>T	ENSP00000489700.1:p.Tyr442=
ENST00000637340.1:n.3251C>T
ENST00000637353.1:c.1326C>T	ENSP00000490441.1:p.Tyr442=
ENST00000637602.1:c.*1027C>T	ENSP00000490074.1:n.*1027C>T
ENST00000637849.1:n.1390C>T
ENST00000637874.1:c.271C>T	ENSP00000490348.1:n.271C>T
ENST00000637892.1:n.1530C>T
ENST00000371068.9:c.1326C>T	ENSP00000360107.4:p.Tyr442=
ENST00000480623.5:c.*1746C>T	ENSP00000434498.1:n.*1746C>T
ENST00000538167.2:c.1269C>T	ENSP00000444521.1:p.Tyr423=
NM_001172420.1:c.1269C>T	NP_001165891.1:p.Tyr423=
NM_018100.3:c.1326C>T	NP_060570.2:p.Tyr442=
NR_033327.1:n.2798C>T
NM_018100.4:c.1326C>T MANE Select	NP_060570.2:p.Tyr442=
NM_001172420.2:c.1269C>T	NP_001165891.1:p.Tyr423=
NR_033327.2:n.2652C>T