Canonical Allele Identifier: CA2578647245

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479612-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479612G>C , CM000668.2:g.52479612G>C	GRCh38
NC_000006.11:g.52344410G>C , CM000668.1:g.52344410G>C	GRCh37
NC_000006.10:g.52452369G>C	NCBI36
NG_016760.1:g.64417G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1493-28G>C MANE Select	ENSP00000360107.4:n.1493-28G>C
ENST00000480623.6:c.1493-28G>C	ENSP00000434498.2:n.1493-28G>C
ENST00000635760.1:c.1169-28G>C	ENSP00000489765.1:n.1169-28G>C
ENST00000635812.1:c.*794-28G>C	ENSP00000490859.1:n.*794-28G>C
ENST00000635866.1:c.*1362-28G>C	ENSP00000489866.1:n.*1362-28G>C
ENST00000635911.1:n.3011-28G>C
ENST00000635984.1:c.1169-28G>C	ENSP00000489921.1:n.1169-28G>C
ENST00000635996.1:c.1493-28G>C	ENSP00000490256.1:n.1493-28G>C
ENST00000636107.1:c.1493-28G>C	ENSP00000489680.1:n.1493-28G>C
ENST00000636311.1:n.1387-28G>C
ENST00000636343.1:c.1159-28G>C
ENST00000636379.1:c.1205-28G>C	ENSP00000490622.1:n.1205-28G>C
ENST00000636398.1:c.1193-28G>C	ENSP00000489654.1:n.1193-28G>C
ENST00000636489.1:c.1436-28G>C	ENSP00000489998.1:n.1436-28G>C
ENST00000636616.1:n.1054-28G>C
ENST00000636702.1:c.1463-28G>C	ENSP00000489623.1:n.1463-28G>C
ENST00000636954.1:c.1436-28G>C	ENSP00000489966.1:n.1436-28G>C
ENST00000637089.1:c.1493-28G>C	ENSP00000489854.1:n.1493-28G>C
ENST00000637121.1:n.1295-28G>C
ENST00000637263.1:c.1493-28G>C	ENSP00000489700.1:n.1493-28G>C
ENST00000637340.1:n.3418-28G>C
ENST00000637353.1:c.1493-28G>C	ENSP00000490441.1:n.1493-28G>C
ENST00000637602.1:c.*1194-28G>C	ENSP00000490074.1:n.*1194-28G>C
ENST00000637849.1:n.1557-28G>C
ENST00000637874.1:c.438-28G>C	ENSP00000490348.1:n.438-28G>C
ENST00000637892.1:n.1697-28G>C
ENST00000371068.9:c.1493-28G>C	ENSP00000360107.4:n.1493-28G>C
ENST00000480623.5:c.*1913-28G>C	ENSP00000434498.1:n.*1913-28G>C
ENST00000538167.2:c.1436-28G>C	ENSP00000444521.1:n.1436-28G>C
NM_001172420.1:c.1436-28G>C	NP_001165891.1:n.1436-28G>C
NM_018100.3:c.1493-28G>C	NP_060570.2:n.1493-28G>C
NR_033327.1:n.2965-28G>C
NM_018100.4:c.1493-28G>C MANE Select	NP_060570.2:n.1493-28G>C
NM_001172420.2:c.1436-28G>C	NP_001165891.1:n.1436-28G>C
NR_033327.2:n.2819-28G>C