Canonical Allele Identifier: CA364452241

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52317577A>C (hg19) ; chr6:g.52452779A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452779A>C , CM000668.2:g.52452779A>C	GRCh38
NC_000006.11:g.52317577A>C , CM000668.1:g.52317577A>C	GRCh37
NC_000006.10:g.52425536A>C	NCBI36
NG_016760.1:g.37584A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.665A>C MANE Select	ENSP00000360107.4:p.Lys222Thr
ENST00000480623.6:c.665A>C	ENSP00000434498.2:p.Lys222Thr
ENST00000635760.1:c.341A>C	ENSP00000489765.1:p.Lys114Thr
ENST00000635812.1:c.665A>C	ENSP00000490859.1:p.Lys222Thr
ENST00000635866.1:c.*534A>C	ENSP00000489866.1:n.*534A>C
ENST00000635911.1:n.926A>C
ENST00000635984.1:c.341A>C	ENSP00000489921.1:p.Lys114Thr
ENST00000635996.1:c.665A>C	ENSP00000490256.1:p.Lys222Thr
ENST00000636107.1:c.665A>C	ENSP00000489680.1:p.Lys222Thr
ENST00000636253.1:n.319A>C
ENST00000636311.1:n.559A>C
ENST00000636343.1:c.331A>C
ENST00000636379.1:c.377A>C	ENSP00000490622.1:p.Lys126Thr
ENST00000636398.1:c.332A>C	ENSP00000489654.1:p.Lys111Thr
ENST00000636489.1:c.608A>C	ENSP00000489998.1:p.Lys203Thr
ENST00000636702.1:c.635A>C	ENSP00000489623.1:p.Lys212Thr
ENST00000636954.1:c.608A>C	ENSP00000489966.1:p.Lys203Thr
ENST00000637089.1:c.665A>C	ENSP00000489854.1:p.Lys222Thr
ENST00000637200.1:c.*681A>C	ENSP00000490567.1:n.*681A>C
ENST00000637263.1:c.665A>C	ENSP00000489700.1:p.Lys222Thr
ENST00000637340.1:n.1333A>C
ENST00000637353.1:c.665A>C	ENSP00000490441.1:p.Lys222Thr
ENST00000637602.1:c.*366A>C	ENSP00000490074.1:n.*366A>C
ENST00000637849.1:n.729A>C
ENST00000637892.1:n.869A>C
ENST00000371068.9:c.665A>C	ENSP00000360107.4:p.Lys222Thr
ENST00000480623.5:c.665A>C	ENSP00000434498.1:p.Lys222Thr
ENST00000538167.2:c.608A>C	ENSP00000444521.1:p.Lys203Thr
NM_001172420.1:c.608A>C	NP_001165891.1:p.Lys203Thr
NM_018100.3:c.665A>C	NP_060570.2:p.Lys222Thr
NR_033327.1:n.880A>C
NM_018100.4:c.665A>C MANE Select	NP_060570.2:p.Lys222Thr
NM_001172420.2:c.608A>C	NP_001165891.1:p.Lys203Thr
NR_033327.2:n.734A>C