Canonical Allele Identifier: CA3856163

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52490165G>A , CM000668.2:g.52490165G>A	GRCh38
NC_000006.11:g.52354963G>A , CM000668.1:g.52354963G>A	GRCh37
NC_000006.10:g.52462922G>A	NCBI36
NG_016760.1:g.74970G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018100.4:c.1666G>A MANE Select	NP_060570.2:p.Val556Met
ENST00000371068.11:c.1666G>A MANE Select	ENSP00000360107.4:p.Val556Met
NM_001172420.1:c.1609G>A	NP_001165891.1:p.Val537Met
NM_001172420.2:c.1609G>A	NP_001165891.1:p.Val537Met
NM_018100.3:c.1666G>A	NP_060570.2:p.Val556Met
NR_033327.1:n.3138G>A
NR_033327.2:n.2992G>A
ENST00000371068.9:c.1666G>A	ENSP00000360107.4:p.Val556Met
ENST00000480623.5:c.*2086G>A	ENSP00000434498.1:n.*2086G>A
ENST00000480623.6:c.*222G>A	ENSP00000434498.2:n.*222G>A
ENST00000481466.1:n.145G>A
ENST00000481466.2:n.51G>A
ENST00000538167.2:c.1609G>A	ENSP00000444521.1:p.Val537Met
ENST00000635760.1:c.1342G>A	ENSP00000489765.1:p.Val448Met
ENST00000635866.1:c.*1535G>A	ENSP00000489866.1:n.*1535G>A
ENST00000635911.1:n.3184G>A
ENST00000635996.1:c.1666G>A	ENSP00000490256.1:p.Val556Met
ENST00000636311.1:n.1560G>A
ENST00000636343.1:c.1332G>A
ENST00000636379.1:c.1378G>A	ENSP00000490622.1:p.Val460Met
ENST00000636398.1:c.1366G>A	ENSP00000489654.1:n.1366G>A
ENST00000636489.1:c.1609G>A	ENSP00000489998.1:p.Val537Met
ENST00000636616.1:n.1227G>A
ENST00000636702.1:c.1636G>A	ENSP00000489623.1:p.Val546Met
ENST00000636954.1:c.1609G>A	ENSP00000489966.1:p.Val537Met
ENST00000637089.1:c.1666G>A	ENSP00000489854.1:p.Val556Met
ENST00000637121.1:n.1468G>A
ENST00000637340.1:n.3591G>A
ENST00000637353.1:c.1666G>A	ENSP00000490441.1:p.Val556Met
ENST00000637602.1:c.*1367G>A	ENSP00000490074.1:n.*1367G>A