Canonical Allele Identifier: CA450427446

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479680-T-C
• MyVariant Identifiers: chr6:g.52344478T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479680T>C , CM000668.2:g.52479680T>C	GRCh38
NC_000006.11:g.52344478T>C , CM000668.1:g.52344478T>C	GRCh37
NC_000006.10:g.52452437T>C	NCBI36
NG_016760.1:g.64485T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1533T>C MANE Select	ENSP00000360107.4:p.Tyr511=
ENST00000480623.6:c.1533T>C	ENSP00000434498.2:p.Tyr511=
ENST00000635760.1:c.1209T>C	ENSP00000489765.1:p.Tyr403=
ENST00000635812.1:c.*834T>C	ENSP00000490859.1:n.*834T>C
ENST00000635866.1:c.*1402T>C	ENSP00000489866.1:n.*1402T>C
ENST00000635911.1:n.3051T>C
ENST00000635984.1:c.1209T>C	ENSP00000489921.1:p.Tyr403=
ENST00000635996.1:c.1533T>C	ENSP00000490256.1:p.Tyr511=
ENST00000636107.1:c.1533T>C	ENSP00000489680.1:p.Tyr511=
ENST00000636311.1:n.1427T>C
ENST00000636343.1:c.1199T>C
ENST00000636379.1:c.1245T>C	ENSP00000490622.1:p.Tyr415=
ENST00000636398.1:c.1233T>C	ENSP00000489654.1:n.1233T>C
ENST00000636489.1:c.1476T>C	ENSP00000489998.1:p.Tyr492=
ENST00000636616.1:n.1094T>C
ENST00000636702.1:c.1503T>C	ENSP00000489623.1:p.Tyr501=
ENST00000636954.1:c.1476T>C	ENSP00000489966.1:p.Tyr492=
ENST00000637089.1:c.1533T>C	ENSP00000489854.1:p.Tyr511=
ENST00000637121.1:n.1335T>C
ENST00000637263.1:c.1533T>C	ENSP00000489700.1:p.Tyr511=
ENST00000637340.1:n.3458T>C
ENST00000637353.1:c.1533T>C	ENSP00000490441.1:p.Tyr511=
ENST00000637602.1:c.*1234T>C	ENSP00000490074.1:n.*1234T>C
ENST00000637849.1:n.1597T>C
ENST00000637874.1:c.478T>C	ENSP00000490348.1:n.478T>C
ENST00000637892.1:n.1737T>C
ENST00000371068.9:c.1533T>C	ENSP00000360107.4:p.Tyr511=
ENST00000480623.5:c.*1953T>C	ENSP00000434498.1:n.*1953T>C
ENST00000538167.2:c.1476T>C	ENSP00000444521.1:p.Tyr492=
NM_001172420.1:c.1476T>C	NP_001165891.1:p.Tyr492=
NM_018100.3:c.1533T>C	NP_060570.2:p.Tyr511=
NR_033327.1:n.3005T>C
NM_018100.4:c.1533T>C MANE Select	NP_060570.2:p.Tyr511=
NM_001172420.2:c.1476T>C	NP_001165891.1:p.Tyr492=
NR_033327.2:n.2859T>C