Canonical Allele Identifier: CA364452104

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52452752-C-A
• MyVariant Identifiers: chr6:g.52317550C>A (hg19) ; chr6:g.52452752C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452752C>A , CM000668.2:g.52452752C>A	GRCh38
NC_000006.11:g.52317550C>A , CM000668.1:g.52317550C>A	GRCh37
NC_000006.10:g.52425509C>A	NCBI36
NG_016760.1:g.37557C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.638C>A MANE Select	ENSP00000360107.4:p.Thr213Asn
ENST00000480623.6:c.638C>A	ENSP00000434498.2:p.Thr213Asn
ENST00000635760.1:c.314C>A	ENSP00000489765.1:p.Thr105Asn
ENST00000635812.1:c.638C>A	ENSP00000490859.1:p.Thr213Asn
ENST00000635866.1:c.*507C>A	ENSP00000489866.1:n.*507C>A
ENST00000635911.1:n.899C>A
ENST00000635984.1:c.314C>A	ENSP00000489921.1:p.Thr105Asn
ENST00000635996.1:c.638C>A	ENSP00000490256.1:p.Thr213Asn
ENST00000636107.1:c.638C>A	ENSP00000489680.1:p.Thr213Asn
ENST00000636253.1:n.292C>A
ENST00000636311.1:n.532C>A
ENST00000636343.1:c.304C>A
ENST00000636379.1:c.350C>A	ENSP00000490622.1:p.Thr117Asn
ENST00000636398.1:c.305C>A	ENSP00000489654.1:p.Thr102Asn
ENST00000636489.1:c.581C>A	ENSP00000489998.1:p.Thr194Asn
ENST00000636702.1:c.608C>A	ENSP00000489623.1:p.Thr203Asn
ENST00000636954.1:c.581C>A	ENSP00000489966.1:p.Thr194Asn
ENST00000637089.1:c.638C>A	ENSP00000489854.1:p.Thr213Asn
ENST00000637200.1:c.*654C>A	ENSP00000490567.1:n.*654C>A
ENST00000637263.1:c.638C>A	ENSP00000489700.1:p.Thr213Asn
ENST00000637340.1:n.1306C>A
ENST00000637353.1:c.638C>A	ENSP00000490441.1:p.Thr213Asn
ENST00000637602.1:c.*339C>A	ENSP00000490074.1:n.*339C>A
ENST00000637849.1:n.702C>A
ENST00000637892.1:n.842C>A
ENST00000638075.1:c.20C>A	ENSP00000490711.1:p.Thr7Asn
ENST00000371068.9:c.638C>A	ENSP00000360107.4:p.Thr213Asn
ENST00000480623.5:c.638C>A	ENSP00000434498.1:p.Thr213Asn
ENST00000538167.2:c.581C>A	ENSP00000444521.1:p.Thr194Asn
NM_001172420.1:c.581C>A	NP_001165891.1:p.Thr194Asn
NM_018100.3:c.638C>A	NP_060570.2:p.Thr213Asn
NR_033327.1:n.853C>A
NM_018100.4:c.638C>A MANE Select	NP_060570.2:p.Thr213Asn
NM_001172420.2:c.581C>A	NP_001165891.1:p.Thr194Asn
NR_033327.2:n.707C>A