Canonical Allele Identifier: CA364452088

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52452746-C-T
• COSMIC: COSM6471295 ; COSM6471296
• MyVariant Identifiers: chr6:g.52317544C>T (hg19) ; chr6:g.52452746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452746C>T , CM000668.2:g.52452746C>T	GRCh38
NC_000006.11:g.52317544C>T , CM000668.1:g.52317544C>T	GRCh37
NC_000006.10:g.52425503C>T	NCBI36
NG_016760.1:g.37551C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.632C>T MANE Select	ENSP00000360107.4:p.Pro211Leu
ENST00000480623.6:c.632C>T	ENSP00000434498.2:p.Pro211Leu
ENST00000635760.1:c.308C>T	ENSP00000489765.1:p.Pro103Leu
ENST00000635812.1:c.632C>T	ENSP00000490859.1:p.Pro211Leu
ENST00000635866.1:c.*501C>T	ENSP00000489866.1:n.*501C>T
ENST00000635911.1:n.893C>T
ENST00000635984.1:c.308C>T	ENSP00000489921.1:p.Pro103Leu
ENST00000635996.1:c.632C>T	ENSP00000490256.1:p.Pro211Leu
ENST00000636107.1:c.632C>T	ENSP00000489680.1:p.Pro211Leu
ENST00000636253.1:n.286C>T
ENST00000636311.1:n.526C>T
ENST00000636343.1:c.298C>T
ENST00000636379.1:c.344C>T	ENSP00000490622.1:p.Pro115Leu
ENST00000636398.1:c.299C>T	ENSP00000489654.1:p.Pro100Leu
ENST00000636489.1:c.575C>T	ENSP00000489998.1:p.Pro192Leu
ENST00000636702.1:c.602C>T	ENSP00000489623.1:p.Pro201Leu
ENST00000636954.1:c.575C>T	ENSP00000489966.1:p.Pro192Leu
ENST00000637089.1:c.632C>T	ENSP00000489854.1:p.Pro211Leu
ENST00000637200.1:c.*648C>T	ENSP00000490567.1:n.*648C>T
ENST00000637263.1:c.632C>T	ENSP00000489700.1:p.Pro211Leu
ENST00000637340.1:n.1300C>T
ENST00000637353.1:c.632C>T	ENSP00000490441.1:p.Pro211Leu
ENST00000637602.1:c.*333C>T	ENSP00000490074.1:n.*333C>T
ENST00000637849.1:n.696C>T
ENST00000637892.1:n.836C>T
ENST00000638075.1:c.14C>T	ENSP00000490711.1:p.Pro5Leu
ENST00000371068.9:c.632C>T	ENSP00000360107.4:p.Pro211Leu
ENST00000480623.5:c.632C>T	ENSP00000434498.1:p.Pro211Leu
ENST00000538167.2:c.575C>T	ENSP00000444521.1:p.Pro192Leu
NM_001172420.1:c.575C>T	NP_001165891.1:p.Pro192Leu
NM_018100.3:c.632C>T	NP_060570.2:p.Pro211Leu
NR_033327.1:n.847C>T
NM_018100.4:c.632C>T MANE Select	NP_060570.2:p.Pro211Leu
NM_001172420.2:c.575C>T	NP_001165891.1:p.Pro192Leu
NR_033327.2:n.701C>T