Canonical Allele Identifier: CA364452090

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52317546T>G (hg19) ; chr6:g.52452748T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452748T>G , CM000668.2:g.52452748T>G	GRCh38
NC_000006.11:g.52317546T>G , CM000668.1:g.52317546T>G	GRCh37
NC_000006.10:g.52425505T>G	NCBI36
NG_016760.1:g.37553T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.634T>G MANE Select	ENSP00000360107.4:p.Tyr212Asp
ENST00000480623.6:c.634T>G	ENSP00000434498.2:p.Tyr212Asp
ENST00000635760.1:c.310T>G	ENSP00000489765.1:p.Tyr104Asp
ENST00000635812.1:c.634T>G	ENSP00000490859.1:p.Tyr212Asp
ENST00000635866.1:c.*503T>G	ENSP00000489866.1:n.*503T>G
ENST00000635911.1:n.895T>G
ENST00000635984.1:c.310T>G	ENSP00000489921.1:p.Tyr104Asp
ENST00000635996.1:c.634T>G	ENSP00000490256.1:p.Tyr212Asp
ENST00000636107.1:c.634T>G	ENSP00000489680.1:p.Tyr212Asp
ENST00000636253.1:n.288T>G
ENST00000636311.1:n.528T>G
ENST00000636343.1:c.300T>G
ENST00000636379.1:c.346T>G	ENSP00000490622.1:p.Tyr116Asp
ENST00000636398.1:c.301T>G	ENSP00000489654.1:p.Tyr101Asp
ENST00000636489.1:c.577T>G	ENSP00000489998.1:p.Tyr193Asp
ENST00000636702.1:c.604T>G	ENSP00000489623.1:p.Tyr202Asp
ENST00000636954.1:c.577T>G	ENSP00000489966.1:p.Tyr193Asp
ENST00000637089.1:c.634T>G	ENSP00000489854.1:p.Tyr212Asp
ENST00000637200.1:c.*650T>G	ENSP00000490567.1:n.*650T>G
ENST00000637263.1:c.634T>G	ENSP00000489700.1:p.Tyr212Asp
ENST00000637340.1:n.1302T>G
ENST00000637353.1:c.634T>G	ENSP00000490441.1:p.Tyr212Asp
ENST00000637602.1:c.*335T>G	ENSP00000490074.1:n.*335T>G
ENST00000637849.1:n.698T>G
ENST00000637892.1:n.838T>G
ENST00000638075.1:c.16T>G	ENSP00000490711.1:p.Tyr6Asp
ENST00000371068.9:c.634T>G	ENSP00000360107.4:p.Tyr212Asp
ENST00000480623.5:c.634T>G	ENSP00000434498.1:p.Tyr212Asp
ENST00000538167.2:c.577T>G	ENSP00000444521.1:p.Tyr193Asp
NM_001172420.1:c.577T>G	NP_001165891.1:p.Tyr193Asp
NM_018100.3:c.634T>G	NP_060570.2:p.Tyr212Asp
NR_033327.1:n.849T>G
NM_018100.4:c.634T>G MANE Select	NP_060570.2:p.Tyr212Asp
NM_001172420.2:c.577T>G	NP_001165891.1:p.Tyr193Asp
NR_033327.2:n.703T>G