Canonical Allele Identifier: CA364452914

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52319062C>T (hg19) ; chr6:g.52454264C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52454264C>T , CM000668.2:g.52454264C>T	GRCh38
NC_000006.11:g.52319062C>T , CM000668.1:g.52319062C>T	GRCh37
NC_000006.10:g.52427021C>T	NCBI36
NG_016760.1:g.39069C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.893C>T MANE Select	ENSP00000360107.4:p.Pro298Leu
ENST00000480623.6:c.893C>T	ENSP00000434498.2:p.Pro298Leu
ENST00000635760.1:c.569C>T	ENSP00000489765.1:p.Pro190Leu
ENST00000635812.1:c.*194C>T	ENSP00000490859.1:n.*194C>T
ENST00000635866.1:c.*762C>T	ENSP00000489866.1:n.*762C>T
ENST00000635911.1:n.2411C>T
ENST00000635984.1:c.569C>T	ENSP00000489921.1:p.Pro190Leu
ENST00000635996.1:c.893C>T	ENSP00000490256.1:p.Pro298Leu
ENST00000636107.1:c.893C>T	ENSP00000489680.1:p.Pro298Leu
ENST00000636311.1:n.787C>T
ENST00000636343.1:c.559C>T
ENST00000636379.1:c.605C>T	ENSP00000490622.1:p.Pro202Leu
ENST00000636398.1:c.593C>T	ENSP00000489654.1:n.593C>T
ENST00000636489.1:c.836C>T	ENSP00000489998.1:p.Pro279Leu
ENST00000636616.1:n.509C>T
ENST00000636702.1:c.863C>T	ENSP00000489623.1:p.Pro288Leu
ENST00000636954.1:c.836C>T	ENSP00000489966.1:p.Pro279Leu
ENST00000637089.1:c.893C>T	ENSP00000489854.1:p.Pro298Leu
ENST00000637263.1:c.893C>T	ENSP00000489700.1:p.Pro298Leu
ENST00000637340.1:n.2818C>T
ENST00000637353.1:c.893C>T	ENSP00000490441.1:p.Pro298Leu
ENST00000637602.1:c.*594C>T	ENSP00000490074.1:n.*594C>T
ENST00000637849.1:n.957C>T
ENST00000637874.1:c.59C>T	ENSP00000490348.1:p.Pro20Leu
ENST00000637892.1:n.1097C>T
ENST00000371068.9:c.893C>T	ENSP00000360107.4:p.Pro298Leu
ENST00000480623.5:c.*1313C>T	ENSP00000434498.1:n.*1313C>T
ENST00000538167.2:c.836C>T	ENSP00000444521.1:p.Pro279Leu
NM_001172420.1:c.836C>T	NP_001165891.1:p.Pro279Leu
NM_018100.3:c.893C>T	NP_060570.2:p.Pro298Leu
NR_033327.1:n.2365C>T
NM_018100.4:c.893C>T MANE Select	NP_060570.2:p.Pro298Leu
NM_001172420.2:c.836C>T	NP_001165891.1:p.Pro279Leu
NR_033327.2:n.2219C>T