Canonical Allele Identifier: CA314456

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 205411
• ClinVar RCV Id: RCV000187369
• dbSNP Id: rs796052419
• gnomAD v3: 6-52420429-C-G
• gnomAD v4: 6-52420429-C-G
• MyVariant Identifiers: chr6:g.52285227C>G (hg19) ; chr6:g.52420429C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52420429C>G , CM000668.2:g.52420429C>G	GRCh38
NC_000006.11:g.52285227C>G , CM000668.1:g.52285227C>G	GRCh37
NC_000006.10:g.52393186C>G	NCBI36
NG_016760.1:g.5234C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.19C>G MANE Select	ENSP00000360107.4:p.His7Asp
ENST00000480623.6:c.19C>G	ENSP00000434498.2:p.His7Asp
ENST00000491749.2:n.88-3517C>G
ENST00000635760.1:c.-261-3517C>G	ENSP00000489765.1:n.-261-3517C>G
ENST00000635812.1:c.19C>G	ENSP00000490859.1:p.His7Asp
ENST00000635843.1:n.57C>G
ENST00000635866.1:c.19C>G	ENSP00000489866.1:p.His7Asp
ENST00000635911.1:n.152C>G
ENST00000635963.1:c.19C>G	ENSP00000489852.1:p.His7Asp
ENST00000635984.1:c.-261-3517C>G	ENSP00000489921.1:n.-261-3517C>G
ENST00000635996.1:c.19C>G	ENSP00000490256.1:p.His7Asp
ENST00000636107.1:c.19C>G	ENSP00000489680.1:p.His7Asp
ENST00000636311.1:n.57C>G
ENST00000636379.1:c.19C>G	ENSP00000490622.1:p.His7Asp
ENST00000636489.1:c.-167C>G	ENSP00000489998.1:n.-167C>G
ENST00000636702.1:c.-154C>G	ENSP00000489623.1:n.-154C>G
ENST00000637089.1:c.19C>G	ENSP00000489854.1:p.His7Asp
ENST00000637200.1:c.19C>G	ENSP00000490567.1:p.His7Asp
ENST00000637263.1:c.19C>G	ENSP00000489700.1:p.His7Asp
ENST00000637315.1:c.46-3517C>G	ENSP00000489708.1:n.46-3517C>G
ENST00000637340.1:n.687C>G
ENST00000637353.1:c.19C>G	ENSP00000490441.1:p.His7Asp
ENST00000637602.1:c.19C>G	ENSP00000490074.1:p.His7Asp
ENST00000637849.1:n.128-3517C>G
ENST00000637892.1:n.223C>G
ENST00000371068.9:c.19C>G	ENSP00000360107.4:p.His7Asp
ENST00000480623.5:c.19C>G	ENSP00000434498.1:p.His7Asp
ENST00000491749.1:n.68C>G
NM_018100.3:c.19C>G	NP_060570.2:p.His7Asp
NR_033327.1:n.234C>G
NM_018100.4:c.19C>G MANE Select	NP_060570.2:p.His7Asp
NR_033327.2:n.88C>G