Canonical Allele Identifier: CA364457837

Gene: EFHC1

Linked Data

• dbSNP Id: rs1765628176
• gnomAD v3: 6-52479660-A-C
• gnomAD v4: 6-52479660-A-C
• MyVariant Identifiers: chr6:g.52344458A>C (hg19) ; chr6:g.52479660A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479660A>C , CM000668.2:g.52479660A>C	GRCh38
NC_000006.11:g.52344458A>C , CM000668.1:g.52344458A>C	GRCh37
NC_000006.10:g.52452417A>C	NCBI36
NG_016760.1:g.64465A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.1513A>C MANE Select	ENSP00000360107.4:p.Ile505Leu
ENST00000480623.6:c.1513A>C	ENSP00000434498.2:p.Ile505Leu
ENST00000635760.1:c.1189A>C	ENSP00000489765.1:p.Ile397Leu
ENST00000635812.1:c.*814A>C	ENSP00000490859.1:n.*814A>C
ENST00000635866.1:c.*1382A>C	ENSP00000489866.1:n.*1382A>C
ENST00000635911.1:n.3031A>C
ENST00000635984.1:c.1189A>C	ENSP00000489921.1:p.Ile397Leu
ENST00000635996.1:c.1513A>C	ENSP00000490256.1:p.Ile505Leu
ENST00000636107.1:c.1513A>C	ENSP00000489680.1:p.Ile505Leu
ENST00000636311.1:n.1407A>C
ENST00000636343.1:c.1179A>C
ENST00000636379.1:c.1225A>C	ENSP00000490622.1:p.Ile409Leu
ENST00000636398.1:c.1213A>C	ENSP00000489654.1:n.1213A>C
ENST00000636489.1:c.1456A>C	ENSP00000489998.1:p.Ile486Leu
ENST00000636616.1:n.1074A>C
ENST00000636702.1:c.1483A>C	ENSP00000489623.1:p.Ile495Leu
ENST00000636954.1:c.1456A>C	ENSP00000489966.1:p.Ile486Leu
ENST00000637089.1:c.1513A>C	ENSP00000489854.1:p.Ile505Leu
ENST00000637121.1:n.1315A>C
ENST00000637263.1:c.1513A>C	ENSP00000489700.1:p.Ile505Leu
ENST00000637340.1:n.3438A>C
ENST00000637353.1:c.1513A>C	ENSP00000490441.1:p.Ile505Leu
ENST00000637602.1:c.*1214A>C	ENSP00000490074.1:n.*1214A>C
ENST00000637849.1:n.1577A>C
ENST00000637874.1:c.458A>C	ENSP00000490348.1:n.458A>C
ENST00000637892.1:n.1717A>C
ENST00000371068.9:c.1513A>C	ENSP00000360107.4:p.Ile505Leu
ENST00000480623.5:c.*1933A>C	ENSP00000434498.1:n.*1933A>C
ENST00000538167.2:c.1456A>C	ENSP00000444521.1:p.Ile486Leu
NM_001172420.1:c.1456A>C	NP_001165891.1:p.Ile486Leu
NM_018100.3:c.1513A>C	NP_060570.2:p.Ile505Leu
NR_033327.1:n.2985A>C
NM_018100.4:c.1513A>C MANE Select	NP_060570.2:p.Ile505Leu
NM_001172420.2:c.1456A>C	NP_001165891.1:p.Ile486Leu
NR_033327.2:n.2839A>C