Canonical Allele Identifier: CA364458274

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479788-G-C
• MyVariant Identifiers: chr6:g.52344586G>C (hg19) ; chr6:g.52479788G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479788G>C , CM000668.2:g.52479788G>C	GRCh38
NC_000006.11:g.52344586G>C , CM000668.1:g.52344586G>C	GRCh37
NC_000006.10:g.52452545G>C	NCBI36
NG_016760.1:g.64593G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1640+1G>C MANE Select	ENSP00000360107.4:n.1640+1G>C
ENST00000480623.6:c.1640+1G>C	ENSP00000434498.2:n.1640+1G>C
ENST00000635760.1:c.1316+1G>C	ENSP00000489765.1:n.1316+1G>C
ENST00000635812.1:c.*941+1G>C	ENSP00000490859.1:n.*941+1G>C
ENST00000635866.1:c.*1509+1G>C	ENSP00000489866.1:n.*1509+1G>C
ENST00000635911.1:n.3158+1G>C
ENST00000635984.1:c.1316+1G>C	ENSP00000489921.1:n.1316+1G>C
ENST00000635996.1:c.1640+1G>C	ENSP00000490256.1:n.1640+1G>C
ENST00000636107.1:c.1640+1G>C	ENSP00000489680.1:n.1640+1G>C
ENST00000636311.1:n.1534+1G>C
ENST00000636343.1:c.1306+1G>C
ENST00000636379.1:c.1352+1G>C	ENSP00000490622.1:n.1352+1G>C
ENST00000636398.1:c.1340+1G>C	ENSP00000489654.1:n.1340+1G>C
ENST00000636489.1:c.1583+1G>C	ENSP00000489998.1:n.1583+1G>C
ENST00000636616.1:n.1201+1G>C
ENST00000636702.1:c.1610+1G>C	ENSP00000489623.1:n.1610+1G>C
ENST00000636954.1:c.1583+1G>C	ENSP00000489966.1:n.1583+1G>C
ENST00000637089.1:c.1640+1G>C	ENSP00000489854.1:n.1640+1G>C
ENST00000637121.1:n.1442+1G>C
ENST00000637263.1:c.1641G>C	ENSP00000489700.1:p.Arg547Ser
ENST00000637340.1:n.3565+1G>C
ENST00000637353.1:c.1640+1G>C	ENSP00000490441.1:n.1640+1G>C
ENST00000637602.1:c.*1341+1G>C	ENSP00000490074.1:n.*1341+1G>C
ENST00000637849.1:n.1704+1G>C
ENST00000637892.1:n.1844+1G>C
ENST00000371068.9:c.1640+1G>C	ENSP00000360107.4:n.1640+1G>C
ENST00000480623.5:c.*2060+1G>C	ENSP00000434498.1:n.*2060+1G>C
ENST00000538167.2:c.1583+1G>C	ENSP00000444521.1:n.1583+1G>C
NM_001172420.1:c.1583+1G>C	NP_001165891.1:n.1583+1G>C
NM_018100.3:c.1640+1G>C	NP_060570.2:n.1640+1G>C
NR_033327.1:n.3112+1G>C
NM_018100.4:c.1640+1G>C MANE Select	NP_060570.2:n.1640+1G>C
NM_001172420.2:c.1583+1G>C	NP_001165891.1:n.1583+1G>C
NR_033327.2:n.2966+1G>C