Canonical Allele Identifier: CA239340

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 193726
• ClinVar RCV Id: RCV000173879 ; RCV000724791 ; RCV003955018 ; RCV003765084
• dbSNP Id: rs145194882
• ExAC: 6:52354972 T / C
• gnomAD v2: 6-52354972-T-C
• gnomAD v3: 6-52490174-T-C
• gnomAD v4: 6-52490174-T-C
• MyVariant Identifiers: chr6:g.52354972T>C (hg19) ; chr6:g.52490174T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52490174T>C , CM000668.2:g.52490174T>C	GRCh38
NC_000006.11:g.52354972T>C , CM000668.1:g.52354972T>C	GRCh37
NC_000006.10:g.52462931T>C	NCBI36
NG_016760.1:g.74979T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1675T>C MANE Select	ENSP00000360107.4:p.Leu559=
ENST00000480623.6:c.*231T>C	ENSP00000434498.2:n.*231T>C
ENST00000481466.2:n.60T>C
ENST00000635760.1:c.1351T>C	ENSP00000489765.1:p.Leu451=
ENST00000635866.1:c.*1544T>C	ENSP00000489866.1:n.*1544T>C
ENST00000635911.1:n.3193T>C
ENST00000635996.1:c.1675T>C	ENSP00000490256.1:p.Leu559=
ENST00000636311.1:n.1569T>C
ENST00000636343.1:c.1341T>C
ENST00000636379.1:c.1387T>C	ENSP00000490622.1:p.Leu463=
ENST00000636398.1:c.1375T>C	ENSP00000489654.1:n.1375T>C
ENST00000636489.1:c.1618T>C	ENSP00000489998.1:p.Leu540=
ENST00000636616.1:n.1236T>C
ENST00000636702.1:c.1645T>C	ENSP00000489623.1:p.Leu549=
ENST00000636954.1:c.1618T>C	ENSP00000489966.1:p.Leu540=
ENST00000637089.1:c.1675T>C	ENSP00000489854.1:p.Leu559=
ENST00000637121.1:n.1477T>C
ENST00000637340.1:n.3600T>C
ENST00000637353.1:c.1675T>C	ENSP00000490441.1:p.Leu559=
ENST00000637602.1:c.*1376T>C	ENSP00000490074.1:n.*1376T>C
ENST00000371068.9:c.1675T>C	ENSP00000360107.4:p.Leu559=
ENST00000480623.5:c.*2095T>C	ENSP00000434498.1:n.*2095T>C
ENST00000481466.1:n.154T>C
ENST00000538167.2:c.1618T>C	ENSP00000444521.1:p.Leu540=
NM_001172420.1:c.1618T>C	NP_001165891.1:p.Leu540=
NM_018100.3:c.1675T>C	NP_060570.2:p.Leu559=
NR_033327.1:n.3147T>C
NM_018100.4:c.1675T>C MANE Select	NP_060570.2:p.Leu559=
NM_001172420.2:c.1618T>C	NP_001165891.1:p.Leu540=
NR_033327.2:n.3001T>C