Canonical Allele Identifier: CA450427448

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52344481T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479683T>C , CM000668.2:g.52479683T>C	GRCh38
NC_000006.11:g.52344481T>C , CM000668.1:g.52344481T>C	GRCh37
NC_000006.10:g.52452440T>C	NCBI36
NG_016760.1:g.64488T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1536T>C MANE Select	ENSP00000360107.4:p.Val512=
ENST00000480623.6:c.1536T>C	ENSP00000434498.2:p.Val512=
ENST00000635760.1:c.1212T>C	ENSP00000489765.1:p.Val404=
ENST00000635812.1:c.*837T>C	ENSP00000490859.1:n.*837T>C
ENST00000635866.1:c.*1405T>C	ENSP00000489866.1:n.*1405T>C
ENST00000635911.1:n.3054T>C
ENST00000635984.1:c.1212T>C	ENSP00000489921.1:p.Val404=
ENST00000635996.1:c.1536T>C	ENSP00000490256.1:p.Val512=
ENST00000636107.1:c.1536T>C	ENSP00000489680.1:p.Val512=
ENST00000636311.1:n.1430T>C
ENST00000636343.1:c.1202T>C
ENST00000636379.1:c.1248T>C	ENSP00000490622.1:p.Val416=
ENST00000636398.1:c.1236T>C	ENSP00000489654.1:n.1236T>C
ENST00000636489.1:c.1479T>C	ENSP00000489998.1:p.Val493=
ENST00000636616.1:n.1097T>C
ENST00000636702.1:c.1506T>C	ENSP00000489623.1:p.Val502=
ENST00000636954.1:c.1479T>C	ENSP00000489966.1:p.Val493=
ENST00000637089.1:c.1536T>C	ENSP00000489854.1:p.Val512=
ENST00000637121.1:n.1338T>C
ENST00000637263.1:c.1536T>C	ENSP00000489700.1:p.Val512=
ENST00000637340.1:n.3461T>C
ENST00000637353.1:c.1536T>C	ENSP00000490441.1:p.Val512=
ENST00000637602.1:c.*1237T>C	ENSP00000490074.1:n.*1237T>C
ENST00000637849.1:n.1600T>C
ENST00000637874.1:c.481T>C	ENSP00000490348.1:n.481T>C
ENST00000637892.1:n.1740T>C
ENST00000371068.9:c.1536T>C	ENSP00000360107.4:p.Val512=
ENST00000480623.5:c.*1956T>C	ENSP00000434498.1:n.*1956T>C
ENST00000538167.2:c.1479T>C	ENSP00000444521.1:p.Val493=
NM_001172420.1:c.1479T>C	NP_001165891.1:p.Val493=
NM_018100.3:c.1536T>C	NP_060570.2:p.Val512=
NR_033327.1:n.3008T>C
NM_018100.4:c.1536T>C MANE Select	NP_060570.2:p.Val512=
NM_001172420.2:c.1479T>C	NP_001165891.1:p.Val493=
NR_033327.2:n.2862T>C