Canonical Allele Identifier: CA364455577

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52464970-T-C
• MyVariant Identifiers: chr6:g.52329768T>C (hg19) ; chr6:g.52464970T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464970T>C , CM000668.2:g.52464970T>C	GRCh38
NC_000006.11:g.52329768T>C , CM000668.1:g.52329768T>C	GRCh37
NC_000006.10:g.52437727T>C	NCBI36
NG_016760.1:g.49775T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.992T>C MANE Select	ENSP00000360107.4:p.Val331Ala
ENST00000480623.6:c.992T>C	ENSP00000434498.2:p.Val331Ala
ENST00000635760.1:c.668T>C	ENSP00000489765.1:p.Val223Ala
ENST00000635812.1:c.*293T>C	ENSP00000490859.1:n.*293T>C
ENST00000635866.1:c.*861T>C	ENSP00000489866.1:n.*861T>C
ENST00000635911.1:n.2510T>C
ENST00000635984.1:c.668T>C	ENSP00000489921.1:p.Val223Ala
ENST00000635996.1:c.992T>C	ENSP00000490256.1:p.Val331Ala
ENST00000636107.1:c.992T>C	ENSP00000489680.1:p.Val331Ala
ENST00000636311.1:n.886T>C
ENST00000636343.1:c.658T>C
ENST00000636379.1:c.704T>C	ENSP00000490622.1:p.Val235Ala
ENST00000636398.1:c.692T>C	ENSP00000489654.1:n.692T>C
ENST00000636489.1:c.935T>C	ENSP00000489998.1:p.Val312Ala
ENST00000636616.1:n.608T>C
ENST00000636702.1:c.962T>C	ENSP00000489623.1:p.Val321Ala
ENST00000636954.1:c.935T>C	ENSP00000489966.1:p.Val312Ala
ENST00000637089.1:c.992T>C	ENSP00000489854.1:p.Val331Ala
ENST00000637263.1:c.992T>C	ENSP00000489700.1:p.Val331Ala
ENST00000637340.1:n.2917T>C
ENST00000637353.1:c.992T>C	ENSP00000490441.1:p.Val331Ala
ENST00000637602.1:c.*693T>C	ENSP00000490074.1:n.*693T>C
ENST00000637849.1:n.1056T>C
ENST00000637874.1:c.83-4363T>C	ENSP00000490348.1:n.83-4363T>C
ENST00000637892.1:n.1196T>C
ENST00000371068.9:c.992T>C	ENSP00000360107.4:p.Val331Ala
ENST00000480623.5:c.*1412T>C	ENSP00000434498.1:n.*1412T>C
ENST00000538167.2:c.935T>C	ENSP00000444521.1:p.Val312Ala
NM_001172420.1:c.935T>C	NP_001165891.1:p.Val312Ala
NM_018100.3:c.992T>C	NP_060570.2:p.Val331Ala
NR_033327.1:n.2464T>C
NM_018100.4:c.992T>C MANE Select	NP_060570.2:p.Val331Ala
NM_001172420.2:c.935T>C	NP_001165891.1:p.Val312Ala
NR_033327.2:n.2318T>C