Canonical Allele Identifier: CA364452096

Gene: EFHC1

Linked Data

• MyVariant Identifiers: chr6:g.52317548C>A (hg19) ; chr6:g.52452750C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452750C>A , CM000668.2:g.52452750C>A	GRCh38
NC_000006.11:g.52317548C>A , CM000668.1:g.52317548C>A	GRCh37
NC_000006.10:g.52425507C>A	NCBI36
NG_016760.1:g.37555C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.636C>A MANE Select	ENSP00000360107.4:p.Tyr212Ter
ENST00000480623.6:c.636C>A	ENSP00000434498.2:p.Tyr212Ter
ENST00000635760.1:c.312C>A	ENSP00000489765.1:p.Tyr104Ter
ENST00000635812.1:c.636C>A	ENSP00000490859.1:p.Tyr212Ter
ENST00000635866.1:c.*505C>A	ENSP00000489866.1:n.*505C>A
ENST00000635911.1:n.897C>A
ENST00000635984.1:c.312C>A	ENSP00000489921.1:p.Tyr104Ter
ENST00000635996.1:c.636C>A	ENSP00000490256.1:p.Tyr212Ter
ENST00000636107.1:c.636C>A	ENSP00000489680.1:p.Tyr212Ter
ENST00000636253.1:n.290C>A
ENST00000636311.1:n.530C>A
ENST00000636343.1:c.302C>A
ENST00000636379.1:c.348C>A	ENSP00000490622.1:p.Tyr116Ter
ENST00000636398.1:c.303C>A	ENSP00000489654.1:p.Tyr101Ter
ENST00000636489.1:c.579C>A	ENSP00000489998.1:p.Tyr193Ter
ENST00000636702.1:c.606C>A	ENSP00000489623.1:p.Tyr202Ter
ENST00000636954.1:c.579C>A	ENSP00000489966.1:p.Tyr193Ter
ENST00000637089.1:c.636C>A	ENSP00000489854.1:p.Tyr212Ter
ENST00000637200.1:c.*652C>A	ENSP00000490567.1:n.*652C>A
ENST00000637263.1:c.636C>A	ENSP00000489700.1:p.Tyr212Ter
ENST00000637340.1:n.1304C>A
ENST00000637353.1:c.636C>A	ENSP00000490441.1:p.Tyr212Ter
ENST00000637602.1:c.*337C>A	ENSP00000490074.1:n.*337C>A
ENST00000637849.1:n.700C>A
ENST00000637892.1:n.840C>A
ENST00000638075.1:c.18C>A	ENSP00000490711.1:p.Tyr6Ter
ENST00000371068.9:c.636C>A	ENSP00000360107.4:p.Tyr212Ter
ENST00000480623.5:c.636C>A	ENSP00000434498.1:p.Tyr212Ter
ENST00000538167.2:c.579C>A	ENSP00000444521.1:p.Tyr193Ter
NM_001172420.1:c.579C>A	NP_001165891.1:p.Tyr193Ter
NM_018100.3:c.636C>A	NP_060570.2:p.Tyr212Ter
NR_033327.1:n.851C>A
NM_018100.4:c.636C>A MANE Select	NP_060570.2:p.Tyr212Ter
NM_001172420.2:c.579C>A	NP_001165891.1:p.Tyr193Ter
NR_033327.2:n.705C>A