Canonical Allele Identifier: CA567306657

Gene: EFHC1

Linked Data

• dbSNP Id: rs373790688
• gnomAD v2: 6-52317449-C-T
• gnomAD v4: 6-52452651-C-T
• MyVariant Identifiers: chr6:g.52317449C>T (hg19) ; chr6:g.52452651C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452651C>T , CM000668.2:g.52452651C>T	GRCh38
NC_000006.11:g.52317449C>T , CM000668.1:g.52317449C>T	GRCh37
NC_000006.10:g.52425408C>T	NCBI36
NG_016760.1:g.37456C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.574-37C>T MANE Select	ENSP00000360107.4:n.574-37C>T
ENST00000480623.6:c.574-37C>T	ENSP00000434498.2:n.574-37C>T
ENST00000635760.1:c.250-37C>T	ENSP00000489765.1:n.250-37C>T
ENST00000635812.1:c.574-37C>T	ENSP00000490859.1:n.574-37C>T
ENST00000635866.1:c.*443-37C>T	ENSP00000489866.1:n.*443-37C>T
ENST00000635911.1:n.835-37C>T
ENST00000635984.1:c.250-37C>T	ENSP00000489921.1:n.250-37C>T
ENST00000635996.1:c.574-37C>T	ENSP00000490256.1:n.574-37C>T
ENST00000636107.1:c.574-37C>T	ENSP00000489680.1:n.574-37C>T
ENST00000636253.1:n.228-37C>T
ENST00000636311.1:n.468-37C>T
ENST00000636343.1:c.240-37C>T
ENST00000636379.1:c.286-37C>T	ENSP00000490622.1:n.286-37C>T
ENST00000636398.1:c.241-37C>T	ENSP00000489654.1:n.241-37C>T
ENST00000636489.1:c.517-37C>T	ENSP00000489998.1:n.517-37C>T
ENST00000636702.1:c.544-37C>T	ENSP00000489623.1:n.544-37C>T
ENST00000636954.1:c.517-37C>T	ENSP00000489966.1:n.517-37C>T
ENST00000637089.1:c.574-37C>T	ENSP00000489854.1:n.574-37C>T
ENST00000637200.1:c.*590-37C>T	ENSP00000490567.1:n.*590-37C>T
ENST00000637263.1:c.574-37C>T	ENSP00000489700.1:n.574-37C>T
ENST00000637340.1:n.1242-37C>T
ENST00000637353.1:c.574-37C>T	ENSP00000490441.1:n.574-37C>T
ENST00000637602.1:c.*275-37C>T	ENSP00000490074.1:n.*275-37C>T
ENST00000637849.1:n.638-37C>T
ENST00000637892.1:n.778-37C>T
ENST00000638075.1:c.-45-37C>T	ENSP00000490711.1:n.-45-37C>T
ENST00000371068.9:c.574-37C>T	ENSP00000360107.4:n.574-37C>T
ENST00000480623.5:c.574-37C>T	ENSP00000434498.1:n.574-37C>T
ENST00000538167.2:c.517-37C>T	ENSP00000444521.1:n.517-37C>T
NM_001172420.1:c.517-37C>T	NP_001165891.1:n.517-37C>T
NM_018100.3:c.574-37C>T	NP_060570.2:n.574-37C>T
NR_033327.1:n.789-37C>T
NM_018100.4:c.574-37C>T MANE Select	NP_060570.2:n.574-37C>T
NM_001172420.2:c.517-37C>T	NP_001165891.1:n.517-37C>T
NR_033327.2:n.643-37C>T