Canonical Allele Identifier: CA3856119

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 946011
• ClinVar RCV Id: RCV003770252
• dbSNP Id: rs768684304
• ExAC: 6:52344491 A / C
• gnomAD v2: 6-52344491-A-C
• gnomAD v4: 6-52479693-A-C
• MyVariant Identifiers: chr6:g.52344491A>C (hg19) ; chr6:g.52479693A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479693A>C , CM000668.2:g.52479693A>C	GRCh38
NC_000006.11:g.52344491A>C , CM000668.1:g.52344491A>C	GRCh37
NC_000006.10:g.52452450A>C	NCBI36
NG_016760.1:g.64498A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1546A>C MANE Select	ENSP00000360107.4:p.Met516Leu
ENST00000480623.6:c.1546A>C	ENSP00000434498.2:p.Met516Leu
ENST00000635760.1:c.1222A>C	ENSP00000489765.1:p.Met408Leu
ENST00000635812.1:c.*847A>C	ENSP00000490859.1:n.*847A>C
ENST00000635866.1:c.*1415A>C	ENSP00000489866.1:n.*1415A>C
ENST00000635911.1:n.3064A>C
ENST00000635984.1:c.1222A>C	ENSP00000489921.1:p.Met408Leu
ENST00000635996.1:c.1546A>C	ENSP00000490256.1:p.Met516Leu
ENST00000636107.1:c.1546A>C	ENSP00000489680.1:p.Met516Leu
ENST00000636311.1:n.1440A>C
ENST00000636343.1:c.1212A>C
ENST00000636379.1:c.1258A>C	ENSP00000490622.1:p.Met420Leu
ENST00000636398.1:c.1246A>C	ENSP00000489654.1:n.1246A>C
ENST00000636489.1:c.1489A>C	ENSP00000489998.1:p.Met497Leu
ENST00000636616.1:n.1107A>C
ENST00000636702.1:c.1516A>C	ENSP00000489623.1:p.Met506Leu
ENST00000636954.1:c.1489A>C	ENSP00000489966.1:p.Met497Leu
ENST00000637089.1:c.1546A>C	ENSP00000489854.1:p.Met516Leu
ENST00000637121.1:n.1348A>C
ENST00000637263.1:c.1546A>C	ENSP00000489700.1:p.Met516Leu
ENST00000637340.1:n.3471A>C
ENST00000637353.1:c.1546A>C	ENSP00000490441.1:p.Met516Leu
ENST00000637602.1:c.*1247A>C	ENSP00000490074.1:n.*1247A>C
ENST00000637849.1:n.1610A>C
ENST00000637892.1:n.1750A>C
ENST00000371068.9:c.1546A>C	ENSP00000360107.4:p.Met516Leu
ENST00000480623.5:c.*1966A>C	ENSP00000434498.1:n.*1966A>C
ENST00000538167.2:c.1489A>C	ENSP00000444521.1:p.Met497Leu
NM_001172420.1:c.1489A>C	NP_001165891.1:p.Met497Leu
NM_018100.3:c.1546A>C	NP_060570.2:p.Met516Leu
NR_033327.1:n.3018A>C
NM_018100.4:c.1546A>C MANE Select	NP_060570.2:p.Met516Leu
NM_001172420.2:c.1489A>C	NP_001165891.1:p.Met497Leu
NR_033327.2:n.2872A>C