Canonical Allele Identifier: CA138992904

Gene: EFHC1

Linked Data

• dbSNP Id: rs759944784
• gnomAD v2: 6-52344531-C-T
• gnomAD v4: 6-52479733-C-T
• MyVariant Identifiers: chr6:g.52344531C>T (hg19) ; chr6:g.52479733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479733C>T , CM000668.2:g.52479733C>T	GRCh38
NC_000006.11:g.52344531C>T , CM000668.1:g.52344531C>T	GRCh37
NC_000006.10:g.52452490C>T	NCBI36
NG_016760.1:g.64538C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1586C>T MANE Select	ENSP00000360107.4:p.Ala529Val
ENST00000480623.6:c.1586C>T	ENSP00000434498.2:p.Ala529Val
ENST00000635760.1:c.1262C>T	ENSP00000489765.1:p.Ala421Val
ENST00000635812.1:c.*887C>T	ENSP00000490859.1:n.*887C>T
ENST00000635866.1:c.*1455C>T	ENSP00000489866.1:n.*1455C>T
ENST00000635911.1:n.3104C>T
ENST00000635984.1:c.1262C>T	ENSP00000489921.1:p.Ala421Val
ENST00000635996.1:c.1586C>T	ENSP00000490256.1:p.Ala529Val
ENST00000636107.1:c.1586C>T	ENSP00000489680.1:p.Ala529Val
ENST00000636311.1:n.1480C>T
ENST00000636343.1:c.1252C>T
ENST00000636379.1:c.1298C>T	ENSP00000490622.1:p.Ala433Val
ENST00000636398.1:c.1286C>T	ENSP00000489654.1:n.1286C>T
ENST00000636489.1:c.1529C>T	ENSP00000489998.1:p.Ala510Val
ENST00000636616.1:n.1147C>T
ENST00000636702.1:c.1556C>T	ENSP00000489623.1:p.Ala519Val
ENST00000636954.1:c.1529C>T	ENSP00000489966.1:p.Ala510Val
ENST00000637089.1:c.1586C>T	ENSP00000489854.1:p.Ala529Val
ENST00000637121.1:n.1388C>T
ENST00000637263.1:c.1586C>T	ENSP00000489700.1:p.Ala529Val
ENST00000637340.1:n.3511C>T
ENST00000637353.1:c.1586C>T	ENSP00000490441.1:p.Ala529Val
ENST00000637602.1:c.*1287C>T	ENSP00000490074.1:n.*1287C>T
ENST00000637849.1:n.1650C>T
ENST00000637892.1:n.1790C>T
ENST00000371068.9:c.1586C>T	ENSP00000360107.4:p.Ala529Val
ENST00000480623.5:c.*2006C>T	ENSP00000434498.1:n.*2006C>T
ENST00000538167.2:c.1529C>T	ENSP00000444521.1:p.Ala510Val
NM_001172420.1:c.1529C>T	NP_001165891.1:p.Ala510Val
NM_018100.3:c.1586C>T	NP_060570.2:p.Ala529Val
NR_033327.1:n.3058C>T
NM_018100.4:c.1586C>T MANE Select	NP_060570.2:p.Ala529Val
NM_001172420.2:c.1529C>T	NP_001165891.1:p.Ala510Val
NR_033327.2:n.2912C>T