Canonical Allele Identifier: CA3856065

Gene: EFHC1

Linked Data

• dbSNP Id: rs751476384
• ExAC: 6:52343884 T / C
• gnomAD v2: 6-52343884-T-C
• gnomAD v4: 6-52479086-T-C
• MyVariant Identifiers: chr6:g.52343884T>C (hg19) ; chr6:g.52479086T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479086T>C , CM000668.2:g.52479086T>C	GRCh38
NC_000006.11:g.52343884T>C , CM000668.1:g.52343884T>C	GRCh37
NC_000006.10:g.52451843T>C	NCBI36
NG_016760.1:g.63891T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1328T>C MANE Select	ENSP00000360107.4:p.Phe443Ser
ENST00000480623.6:c.1328T>C	ENSP00000434498.2:p.Phe443Ser
ENST00000635760.1:c.1004T>C	ENSP00000489765.1:p.Phe335Ser
ENST00000635812.1:c.*629T>C	ENSP00000490859.1:n.*629T>C
ENST00000635866.1:c.*1197T>C	ENSP00000489866.1:n.*1197T>C
ENST00000635911.1:n.2846T>C
ENST00000635984.1:c.1004T>C	ENSP00000489921.1:p.Phe335Ser
ENST00000635996.1:c.1328T>C	ENSP00000490256.1:p.Phe443Ser
ENST00000636107.1:c.1328T>C	ENSP00000489680.1:p.Phe443Ser
ENST00000636311.1:n.1222T>C
ENST00000636343.1:c.994T>C
ENST00000636379.1:c.1040T>C	ENSP00000490622.1:p.Phe347Ser
ENST00000636398.1:c.1028T>C	ENSP00000489654.1:n.1028T>C
ENST00000636489.1:c.1271T>C	ENSP00000489998.1:p.Phe424Ser
ENST00000636616.1:n.895-6T>C
ENST00000636702.1:c.1298T>C	ENSP00000489623.1:p.Phe433Ser
ENST00000636954.1:c.1271T>C	ENSP00000489966.1:p.Phe424Ser
ENST00000637089.1:c.1328T>C	ENSP00000489854.1:p.Phe443Ser
ENST00000637121.1:n.1130T>C
ENST00000637263.1:c.1328T>C	ENSP00000489700.1:p.Phe443Ser
ENST00000637340.1:n.3253T>C
ENST00000637353.1:c.1328T>C	ENSP00000490441.1:p.Phe443Ser
ENST00000637602.1:c.*1029T>C	ENSP00000490074.1:n.*1029T>C
ENST00000637849.1:n.1392T>C
ENST00000637874.1:c.273T>C	ENSP00000490348.1:n.273T>C
ENST00000637892.1:n.1532T>C
ENST00000371068.9:c.1328T>C	ENSP00000360107.4:p.Phe443Ser
ENST00000480623.5:c.*1748T>C	ENSP00000434498.1:n.*1748T>C
ENST00000538167.2:c.1271T>C	ENSP00000444521.1:p.Phe424Ser
NM_001172420.1:c.1271T>C	NP_001165891.1:p.Phe424Ser
NM_018100.3:c.1328T>C	NP_060570.2:p.Phe443Ser
NR_033327.1:n.2800T>C
NM_018100.4:c.1328T>C MANE Select	NP_060570.2:p.Phe443Ser
NM_001172420.2:c.1271T>C	NP_001165891.1:p.Phe424Ser
NR_033327.2:n.2654T>C