Canonical Allele Identifier: CA364457908

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52344470G>C (hg19) ; chr6:g.52479672G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479672G>C , CM000668.2:g.52479672G>C	GRCh38
NC_000006.11:g.52344470G>C , CM000668.1:g.52344470G>C	GRCh37
NC_000006.10:g.52452429G>C	NCBI36
NG_016760.1:g.64477G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.1525G>C MANE Select	ENSP00000360107.4:p.Asp509His
ENST00000480623.6:c.1525G>C	ENSP00000434498.2:p.Asp509His
ENST00000635760.1:c.1201G>C	ENSP00000489765.1:p.Asp401His
ENST00000635812.1:c.*826G>C	ENSP00000490859.1:n.*826G>C
ENST00000635866.1:c.*1394G>C	ENSP00000489866.1:n.*1394G>C
ENST00000635911.1:n.3043G>C
ENST00000635984.1:c.1201G>C	ENSP00000489921.1:p.Asp401His
ENST00000635996.1:c.1525G>C	ENSP00000490256.1:p.Asp509His
ENST00000636107.1:c.1525G>C	ENSP00000489680.1:p.Asp509His
ENST00000636311.1:n.1419G>C
ENST00000636343.1:c.1191G>C
ENST00000636379.1:c.1237G>C	ENSP00000490622.1:p.Asp413His
ENST00000636398.1:c.1225G>C	ENSP00000489654.1:n.1225G>C
ENST00000636489.1:c.1468G>C	ENSP00000489998.1:p.Asp490His
ENST00000636616.1:n.1086G>C
ENST00000636702.1:c.1495G>C	ENSP00000489623.1:p.Asp499His
ENST00000636954.1:c.1468G>C	ENSP00000489966.1:p.Asp490His
ENST00000637089.1:c.1525G>C	ENSP00000489854.1:p.Asp509His
ENST00000637121.1:n.1327G>C
ENST00000637263.1:c.1525G>C	ENSP00000489700.1:p.Asp509His
ENST00000637340.1:n.3450G>C
ENST00000637353.1:c.1525G>C	ENSP00000490441.1:p.Asp509His
ENST00000637602.1:c.*1226G>C	ENSP00000490074.1:n.*1226G>C
ENST00000637849.1:n.1589G>C
ENST00000637874.1:c.470G>C	ENSP00000490348.1:n.470G>C
ENST00000637892.1:n.1729G>C
ENST00000371068.9:c.1525G>C	ENSP00000360107.4:p.Asp509His
ENST00000480623.5:c.*1945G>C	ENSP00000434498.1:n.*1945G>C
ENST00000538167.2:c.1468G>C	ENSP00000444521.1:p.Asp490His
NM_001172420.1:c.1468G>C	NP_001165891.1:p.Asp490His
NM_018100.3:c.1525G>C	NP_060570.2:p.Asp509His
NR_033327.1:n.2997G>C
NM_018100.4:c.1525G>C MANE Select	NP_060570.2:p.Asp509His
NM_001172420.2:c.1468G>C	NP_001165891.1:p.Asp490His
NR_033327.2:n.2851G>C