Canonical Allele Identifier: CA364458208

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 571113
• ClinVar RCV Id: RCV003768059
• dbSNP Id: rs867304706
• MyVariant Identifiers: chr6:g.52344552G>C (hg19) ; chr6:g.52479754G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479754G>C , CM000668.2:g.52479754G>C	GRCh38
NC_000006.11:g.52344552G>C , CM000668.1:g.52344552G>C	GRCh37
NC_000006.10:g.52452511G>C	NCBI36
NG_016760.1:g.64559G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1607G>C MANE Select	ENSP00000360107.4:p.Arg536Pro
ENST00000480623.6:c.1607G>C	ENSP00000434498.2:p.Arg536Pro
ENST00000635760.1:c.1283G>C	ENSP00000489765.1:p.Arg428Pro
ENST00000635812.1:c.*908G>C	ENSP00000490859.1:n.*908G>C
ENST00000635866.1:c.*1476G>C	ENSP00000489866.1:n.*1476G>C
ENST00000635911.1:n.3125G>C
ENST00000635984.1:c.1283G>C	ENSP00000489921.1:p.Arg428Pro
ENST00000635996.1:c.1607G>C	ENSP00000490256.1:p.Arg536Pro
ENST00000636107.1:c.1607G>C	ENSP00000489680.1:p.Arg536Pro
ENST00000636311.1:n.1501G>C
ENST00000636343.1:c.1273G>C
ENST00000636379.1:c.1319G>C	ENSP00000490622.1:p.Arg440Pro
ENST00000636398.1:c.1307G>C	ENSP00000489654.1:n.1307G>C
ENST00000636489.1:c.1550G>C	ENSP00000489998.1:p.Arg517Pro
ENST00000636616.1:n.1168G>C
ENST00000636702.1:c.1577G>C	ENSP00000489623.1:p.Arg526Pro
ENST00000636954.1:c.1550G>C	ENSP00000489966.1:p.Arg517Pro
ENST00000637089.1:c.1607G>C	ENSP00000489854.1:p.Arg536Pro
ENST00000637121.1:n.1409G>C
ENST00000637263.1:c.1607G>C	ENSP00000489700.1:p.Arg536Pro
ENST00000637340.1:n.3532G>C
ENST00000637353.1:c.1607G>C	ENSP00000490441.1:p.Arg536Pro
ENST00000637602.1:c.*1308G>C	ENSP00000490074.1:n.*1308G>C
ENST00000637849.1:n.1671G>C
ENST00000637892.1:n.1811G>C
ENST00000371068.9:c.1607G>C	ENSP00000360107.4:p.Arg536Pro
ENST00000480623.5:c.*2027G>C	ENSP00000434498.1:n.*2027G>C
ENST00000538167.2:c.1550G>C	ENSP00000444521.1:p.Arg517Pro
NM_001172420.1:c.1550G>C	NP_001165891.1:p.Arg517Pro
NM_018100.3:c.1607G>C	NP_060570.2:p.Arg536Pro
NR_033327.1:n.3079G>C
NM_018100.4:c.1607G>C MANE Select	NP_060570.2:p.Arg536Pro
NM_001172420.2:c.1550G>C	NP_001165891.1:p.Arg517Pro
NR_033327.2:n.2933G>C