Canonical Allele Identifier: CA450422407

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52317542T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452744T>C , CM000668.2:g.52452744T>C	GRCh38
NC_000006.11:g.52317542T>C , CM000668.1:g.52317542T>C	GRCh37
NC_000006.10:g.52425501T>C	NCBI36
NG_016760.1:g.37549T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.630T>C MANE Select	ENSP00000360107.4:p.Asp210=
ENST00000480623.6:c.630T>C	ENSP00000434498.2:p.Asp210=
ENST00000635760.1:c.306T>C	ENSP00000489765.1:p.Asp102=
ENST00000635812.1:c.630T>C	ENSP00000490859.1:p.Asp210=
ENST00000635866.1:c.*499T>C	ENSP00000489866.1:n.*499T>C
ENST00000635911.1:n.891T>C
ENST00000635984.1:c.306T>C	ENSP00000489921.1:p.Asp102=
ENST00000635996.1:c.630T>C	ENSP00000490256.1:p.Asp210=
ENST00000636107.1:c.630T>C	ENSP00000489680.1:p.Asp210=
ENST00000636253.1:n.284T>C
ENST00000636311.1:n.524T>C
ENST00000636343.1:c.296T>C
ENST00000636379.1:c.342T>C	ENSP00000490622.1:p.Asp114=
ENST00000636398.1:c.297T>C	ENSP00000489654.1:p.Asp99=
ENST00000636489.1:c.573T>C	ENSP00000489998.1:p.Asp191=
ENST00000636702.1:c.600T>C	ENSP00000489623.1:p.Asp200=
ENST00000636954.1:c.573T>C	ENSP00000489966.1:p.Asp191=
ENST00000637089.1:c.630T>C	ENSP00000489854.1:p.Asp210=
ENST00000637200.1:c.*646T>C	ENSP00000490567.1:n.*646T>C
ENST00000637263.1:c.630T>C	ENSP00000489700.1:p.Asp210=
ENST00000637340.1:n.1298T>C
ENST00000637353.1:c.630T>C	ENSP00000490441.1:p.Asp210=
ENST00000637602.1:c.*331T>C	ENSP00000490074.1:n.*331T>C
ENST00000637849.1:n.694T>C
ENST00000637892.1:n.834T>C
ENST00000638075.1:c.12T>C	ENSP00000490711.1:p.Asp4=
ENST00000371068.9:c.630T>C	ENSP00000360107.4:p.Asp210=
ENST00000480623.5:c.630T>C	ENSP00000434498.1:p.Asp210=
ENST00000538167.2:c.573T>C	ENSP00000444521.1:p.Asp191=
NM_001172420.1:c.573T>C	NP_001165891.1:p.Asp191=
NM_018100.3:c.630T>C	NP_060570.2:p.Asp210=
NR_033327.1:n.845T>C
NM_018100.4:c.630T>C MANE Select	NP_060570.2:p.Asp210=
NM_001172420.2:c.573T>C	NP_001165891.1:p.Asp191=
NR_033327.2:n.699T>C