Canonical Allele Identifier: CA2987004854

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452613T>C , CM000668.2:g.52452613T>C	GRCh38
NC_000006.11:g.52317411T>C , CM000668.1:g.52317411T>C	GRCh37
NC_000006.10:g.52425370T>C	NCBI36
NG_016760.1:g.37418T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018100.4:c.574-75T>C MANE Select	NP_060570.2:n.574-75T>C
ENST00000371068.11:c.574-75T>C MANE Select	ENSP00000360107.4:n.574-75T>C
NM_001172420.1:c.517-75T>C	NP_001165891.1:n.517-75T>C
NM_001172420.2:c.517-75T>C	NP_001165891.1:n.517-75T>C
NM_018100.3:c.574-75T>C	NP_060570.2:n.574-75T>C
NR_033327.1:n.789-75T>C
NR_033327.2:n.643-75T>C
ENST00000371068.9:c.574-75T>C	ENSP00000360107.4:n.574-75T>C
ENST00000480623.5:c.574-75T>C	ENSP00000434498.1:n.574-75T>C
ENST00000480623.6:c.574-75T>C	ENSP00000434498.2:n.574-75T>C
ENST00000538167.2:c.517-75T>C	ENSP00000444521.1:n.517-75T>C
ENST00000635760.1:c.250-75T>C	ENSP00000489765.1:n.250-75T>C
ENST00000635812.1:c.574-75T>C	ENSP00000490859.1:n.574-75T>C
ENST00000635866.1:c.*443-75T>C	ENSP00000489866.1:n.*443-75T>C
ENST00000635911.1:n.835-75T>C
ENST00000635984.1:c.250-75T>C	ENSP00000489921.1:n.250-75T>C
ENST00000635996.1:c.574-75T>C	ENSP00000490256.1:n.574-75T>C
ENST00000636107.1:c.574-75T>C	ENSP00000489680.1:n.574-75T>C
ENST00000636253.1:n.228-75T>C
ENST00000636311.1:n.468-75T>C
ENST00000636343.1:c.240-75T>C
ENST00000636379.1:c.286-75T>C	ENSP00000490622.1:n.286-75T>C
ENST00000636398.1:c.241-75T>C	ENSP00000489654.1:n.241-75T>C
ENST00000636489.1:c.517-75T>C	ENSP00000489998.1:n.517-75T>C
ENST00000636702.1:c.544-75T>C	ENSP00000489623.1:n.544-75T>C
ENST00000636954.1:c.517-75T>C	ENSP00000489966.1:n.517-75T>C
ENST00000637089.1:c.574-75T>C	ENSP00000489854.1:n.574-75T>C
ENST00000637200.1:c.*590-75T>C	ENSP00000490567.1:n.*590-75T>C
ENST00000637263.1:c.574-75T>C	ENSP00000489700.1:n.574-75T>C
ENST00000637340.1:n.1242-75T>C
ENST00000637353.1:c.574-75T>C	ENSP00000490441.1:n.574-75T>C
ENST00000637602.1:c.*275-75T>C	ENSP00000490074.1:n.*275-75T>C
ENST00000637849.1:n.638-75T>C
ENST00000637892.1:n.778-75T>C
ENST00000638075.1:c.-45-75T>C	ENSP00000490711.1:n.-45-75T>C