Canonical Allele Identifier: CA026869

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.[52424111C>A;52452776G>A] , CM000668.2:g.[52424111C>A;52452776G>A]	GRCh38
NC_000006.11:g.[52288909C>A;52317574G>A] , CM000668.1:g.[52288909C>A;52317574G>A]	GRCh37
NC_000006.10:g.[52396868C>A;52425533G>A]	NCBI36
NG_016760.1:g.[8916C>A;37581G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.[229C>A;662G>A] MANE Select	ENSP00000360107.4:p.[Pro77Thr;Arg221His]
ENST00000480623.6:c.[229C>A;662G>A]	ENSP00000434498.2:p.[Pro77Thr;Arg221His]
ENST00000635760.1:c.[-96C>A;338G>A]	ENSP00000489765.1:p.Arg113His
ENST00000635812.1:c.[229C>A;662G>A]	ENSP00000490859.1:p.[Pro77Thr;Arg221His]
ENST00000635866.1:c.[229C>A;*531G>A]	ENSP00000489866.1:[p.Pro77Thr;n.*531G>A]
ENST00000635911.1:n.[490C>A;923G>A]
ENST00000635984.1:c.[-96C>A;338G>A]	ENSP00000489921.1:p.Arg113His
ENST00000635996.1:c.[229C>A;662G>A]	ENSP00000490256.1:p.[Pro77Thr;Arg221His]
ENST00000636107.1:c.[229C>A;662G>A]	ENSP00000489680.1:p.[Pro77Thr;Arg221His]
ENST00000636311.1:n.[260C>A;556G>A]
ENST00000636379.1:c.[229C>A;374G>A]	ENSP00000490622.1:p.[Pro77Thr;Arg125His]
ENST00000636489.1:c.[172C>A;605G>A]	ENSP00000489998.1:p.[Pro58Thr;Arg202His]
ENST00000636702.1:c.[199C>A;632G>A]	ENSP00000489623.1:p.[Pro67Thr;Arg211His]
ENST00000636954.1:c.[172C>A;605G>A]	ENSP00000489966.1:p.[Pro58Thr;Arg202His]
ENST00000637089.1:c.[229C>A;662G>A]	ENSP00000489854.1:p.[Pro77Thr;Arg221His]
ENST00000637200.1:c.[229C>A;*678G>A]	ENSP00000490567.1:[p.Pro77Thr;n.*678G>A]
ENST00000637263.1:c.[229C>A;662G>A]	ENSP00000489700.1:p.[Pro77Thr;Arg221His]
ENST00000637340.1:n.[897C>A;1330G>A]
ENST00000637353.1:c.[229C>A;662G>A]	ENSP00000490441.1:p.[Pro77Thr;Arg221His]
ENST00000637602.1:c.[199+30C>A;*363G>A]	ENSP00000490074.1:n.[199+30C>A;*363G>A]
ENST00000637849.1:n.[293C>A;726G>A]
ENST00000637892.1:n.[433C>A;866G>A]
ENST00000371068.9:c.[229C>A;662G>A]	ENSP00000360107.4:p.[Pro77Thr;Arg221His]
ENST00000480623.5:c.[229C>A;662G>A]	ENSP00000434498.1:p.[Pro77Thr;Arg221His]
ENST00000538167.2:c.[172C>A;605G>A]	ENSP00000444521.1:p.[Pro58Thr;Arg202His]
NM_001172420.1:c.[172C>A;605G>A]	NP_001165891.1:p.[Pro58Thr;Arg202His]
NM_018100.3:c.[229C>A;662G>A]	NP_060570.2:p.[Pro77Thr;Arg221His]
NR_033327.1:n.[444C>A;877G>A]
NM_018100.4:c.[229C>A;662G>A] MANE Select	NP_060570.2:p.[Pro77Thr;Arg221His]
NM_001172420.2:c.[172C>A;605G>A]	NP_001165891.1:p.[Pro58Thr;Arg202His]
NR_033327.2:n.[298C>A;731G>A]