Canonical Allele Identifier: CA450427254

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479048-C-T
• MyVariant Identifiers: chr6:g.52343846C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479048C>T , CM000668.2:g.52479048C>T	GRCh38
NC_000006.11:g.52343846C>T , CM000668.1:g.52343846C>T	GRCh37
NC_000006.10:g.52451805C>T	NCBI36
NG_016760.1:g.63853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1290C>T MANE Select	ENSP00000360107.4:p.Ile430=
ENST00000480623.6:c.1290C>T	ENSP00000434498.2:p.Ile430=
ENST00000635760.1:c.966C>T	ENSP00000489765.1:p.Ile322=
ENST00000635812.1:c.*591C>T	ENSP00000490859.1:n.*591C>T
ENST00000635866.1:c.*1159C>T	ENSP00000489866.1:n.*1159C>T
ENST00000635911.1:n.2808C>T
ENST00000635984.1:c.966C>T	ENSP00000489921.1:p.Ile322=
ENST00000635996.1:c.1290C>T	ENSP00000490256.1:p.Ile430=
ENST00000636107.1:c.1290C>T	ENSP00000489680.1:p.Ile430=
ENST00000636311.1:n.1184C>T
ENST00000636343.1:c.956C>T
ENST00000636379.1:c.1002C>T	ENSP00000490622.1:p.Ile334=
ENST00000636398.1:c.990C>T	ENSP00000489654.1:n.990C>T
ENST00000636489.1:c.1233C>T	ENSP00000489998.1:p.Ile411=
ENST00000636616.1:n.895-44C>T
ENST00000636702.1:c.1260C>T	ENSP00000489623.1:p.Ile420=
ENST00000636954.1:c.1233C>T	ENSP00000489966.1:p.Ile411=
ENST00000637089.1:c.1290C>T	ENSP00000489854.1:p.Ile430=
ENST00000637121.1:n.1092C>T
ENST00000637263.1:c.1290C>T	ENSP00000489700.1:p.Ile430=
ENST00000637340.1:n.3215C>T
ENST00000637353.1:c.1290C>T	ENSP00000490441.1:p.Ile430=
ENST00000637602.1:c.*991C>T	ENSP00000490074.1:n.*991C>T
ENST00000637849.1:n.1354C>T
ENST00000637874.1:c.235C>T	ENSP00000490348.1:n.235C>T
ENST00000637892.1:n.1494C>T
ENST00000371068.9:c.1290C>T	ENSP00000360107.4:p.Ile430=
ENST00000480623.5:c.*1710C>T	ENSP00000434498.1:n.*1710C>T
ENST00000538167.2:c.1233C>T	ENSP00000444521.1:p.Ile411=
NM_001172420.1:c.1233C>T	NP_001165891.1:p.Ile411=
NM_018100.3:c.1290C>T	NP_060570.2:p.Ile430=
NR_033327.1:n.2762C>T
NM_018100.4:c.1290C>T MANE Select	NP_060570.2:p.Ile430=
NM_001172420.2:c.1233C>T	NP_001165891.1:p.Ile411=
NR_033327.2:n.2616C>T