Canonical Allele Identifier: CA364451983

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52317499G>T (hg19) ; chr6:g.52452701G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452701G>T , CM000668.2:g.52452701G>T	GRCh38
NC_000006.11:g.52317499G>T , CM000668.1:g.52317499G>T	GRCh37
NC_000006.10:g.52425458G>T	NCBI36
NG_016760.1:g.37506G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.587G>T MANE Select	ENSP00000360107.4:p.Ser196Ile
ENST00000480623.6:c.587G>T	ENSP00000434498.2:p.Ser196Ile
ENST00000635760.1:c.263G>T	ENSP00000489765.1:p.Ser88Ile
ENST00000635812.1:c.587G>T	ENSP00000490859.1:p.Ser196Ile
ENST00000635866.1:c.*456G>T	ENSP00000489866.1:n.*456G>T
ENST00000635911.1:n.848G>T
ENST00000635984.1:c.263G>T	ENSP00000489921.1:p.Ser88Ile
ENST00000635996.1:c.587G>T	ENSP00000490256.1:p.Ser196Ile
ENST00000636107.1:c.587G>T	ENSP00000489680.1:p.Ser196Ile
ENST00000636253.1:n.241G>T
ENST00000636311.1:n.481G>T
ENST00000636343.1:c.253G>T
ENST00000636379.1:c.299G>T	ENSP00000490622.1:p.Ser100Ile
ENST00000636398.1:c.254G>T	ENSP00000489654.1:p.Ser85Ile
ENST00000636489.1:c.530G>T	ENSP00000489998.1:p.Ser177Ile
ENST00000636702.1:c.557G>T	ENSP00000489623.1:p.Ser186Ile
ENST00000636954.1:c.530G>T	ENSP00000489966.1:p.Ser177Ile
ENST00000637089.1:c.587G>T	ENSP00000489854.1:p.Ser196Ile
ENST00000637200.1:c.*603G>T	ENSP00000490567.1:n.*603G>T
ENST00000637263.1:c.587G>T	ENSP00000489700.1:p.Ser196Ile
ENST00000637340.1:n.1255G>T
ENST00000637353.1:c.587G>T	ENSP00000490441.1:p.Ser196Ile
ENST00000637602.1:c.*288G>T	ENSP00000490074.1:n.*288G>T
ENST00000637849.1:n.651G>T
ENST00000637892.1:n.791G>T
ENST00000638075.1:c.-32G>T	ENSP00000490711.1:n.-32G>T
ENST00000371068.9:c.587G>T	ENSP00000360107.4:p.Ser196Ile
ENST00000480623.5:c.587G>T	ENSP00000434498.1:p.Ser196Ile
ENST00000538167.2:c.530G>T	ENSP00000444521.1:p.Ser177Ile
NM_001172420.1:c.530G>T	NP_001165891.1:p.Ser177Ile
NM_018100.3:c.587G>T	NP_060570.2:p.Ser196Ile
NR_033327.1:n.802G>T
NM_018100.4:c.587G>T MANE Select	NP_060570.2:p.Ser196Ile
NM_001172420.2:c.530G>T	NP_001165891.1:p.Ser177Ile
NR_033327.2:n.656G>T