Canonical Allele Identifier: CA364458007

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52344484G>C (hg19) ; chr6:g.52479686G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479686G>C , CM000668.2:g.52479686G>C	GRCh38
NC_000006.11:g.52344484G>C , CM000668.1:g.52344484G>C	GRCh37
NC_000006.10:g.52452443G>C	NCBI36
NG_016760.1:g.64491G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1539G>C MANE Select	ENSP00000360107.4:p.Leu513Phe
ENST00000480623.6:c.1539G>C	ENSP00000434498.2:p.Leu513Phe
ENST00000635760.1:c.1215G>C	ENSP00000489765.1:p.Leu405Phe
ENST00000635812.1:c.*840G>C	ENSP00000490859.1:n.*840G>C
ENST00000635866.1:c.*1408G>C	ENSP00000489866.1:n.*1408G>C
ENST00000635911.1:n.3057G>C
ENST00000635984.1:c.1215G>C	ENSP00000489921.1:p.Leu405Phe
ENST00000635996.1:c.1539G>C	ENSP00000490256.1:p.Leu513Phe
ENST00000636107.1:c.1539G>C	ENSP00000489680.1:p.Leu513Phe
ENST00000636311.1:n.1433G>C
ENST00000636343.1:c.1205G>C
ENST00000636379.1:c.1251G>C	ENSP00000490622.1:p.Leu417Phe
ENST00000636398.1:c.1239G>C	ENSP00000489654.1:n.1239G>C
ENST00000636489.1:c.1482G>C	ENSP00000489998.1:p.Leu494Phe
ENST00000636616.1:n.1100G>C
ENST00000636702.1:c.1509G>C	ENSP00000489623.1:p.Leu503Phe
ENST00000636954.1:c.1482G>C	ENSP00000489966.1:p.Leu494Phe
ENST00000637089.1:c.1539G>C	ENSP00000489854.1:p.Leu513Phe
ENST00000637121.1:n.1341G>C
ENST00000637263.1:c.1539G>C	ENSP00000489700.1:p.Leu513Phe
ENST00000637340.1:n.3464G>C
ENST00000637353.1:c.1539G>C	ENSP00000490441.1:p.Leu513Phe
ENST00000637602.1:c.*1240G>C	ENSP00000490074.1:n.*1240G>C
ENST00000637849.1:n.1603G>C
ENST00000637874.1:c.484G>C	ENSP00000490348.1:n.484G>C
ENST00000637892.1:n.1743G>C
ENST00000371068.9:c.1539G>C	ENSP00000360107.4:p.Leu513Phe
ENST00000480623.5:c.*1959G>C	ENSP00000434498.1:n.*1959G>C
ENST00000538167.2:c.1482G>C	ENSP00000444521.1:p.Leu494Phe
NM_001172420.1:c.1482G>C	NP_001165891.1:p.Leu494Phe
NM_018100.3:c.1539G>C	NP_060570.2:p.Leu513Phe
NR_033327.1:n.3011G>C
NM_018100.4:c.1539G>C MANE Select	NP_060570.2:p.Leu513Phe
NM_001172420.2:c.1482G>C	NP_001165891.1:p.Leu494Phe
NR_033327.2:n.2865G>C