Canonical Allele Identifier: CA3856128

Gene: EFHC1

Linked Data

• dbSNP Id: rs377227885
• ExAC: 6:52344532 G / C
• gnomAD v2: 6-52344532-G-C
• gnomAD v4: 6-52479734-G-C
• MyVariant Identifiers: chr6:g.52344532G>C (hg19) ; chr6:g.52479734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479734G>C , CM000668.2:g.52479734G>C	GRCh38
NC_000006.11:g.52344532G>C , CM000668.1:g.52344532G>C	GRCh37
NC_000006.10:g.52452491G>C	NCBI36
NG_016760.1:g.64539G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1587G>C MANE Select	ENSP00000360107.4:p.Ala529=
ENST00000480623.6:c.1587G>C	ENSP00000434498.2:p.Ala529=
ENST00000635760.1:c.1263G>C	ENSP00000489765.1:p.Ala421=
ENST00000635812.1:c.*888G>C	ENSP00000490859.1:n.*888G>C
ENST00000635866.1:c.*1456G>C	ENSP00000489866.1:n.*1456G>C
ENST00000635911.1:n.3105G>C
ENST00000635984.1:c.1263G>C	ENSP00000489921.1:p.Ala421=
ENST00000635996.1:c.1587G>C	ENSP00000490256.1:p.Ala529=
ENST00000636107.1:c.1587G>C	ENSP00000489680.1:p.Ala529=
ENST00000636311.1:n.1481G>C
ENST00000636343.1:c.1253G>C
ENST00000636379.1:c.1299G>C	ENSP00000490622.1:p.Ala433=
ENST00000636398.1:c.1287G>C	ENSP00000489654.1:n.1287G>C
ENST00000636489.1:c.1530G>C	ENSP00000489998.1:p.Ala510=
ENST00000636616.1:n.1148G>C
ENST00000636702.1:c.1557G>C	ENSP00000489623.1:p.Ala519=
ENST00000636954.1:c.1530G>C	ENSP00000489966.1:p.Ala510=
ENST00000637089.1:c.1587G>C	ENSP00000489854.1:p.Ala529=
ENST00000637121.1:n.1389G>C
ENST00000637263.1:c.1587G>C	ENSP00000489700.1:p.Ala529=
ENST00000637340.1:n.3512G>C
ENST00000637353.1:c.1587G>C	ENSP00000490441.1:p.Ala529=
ENST00000637602.1:c.*1288G>C	ENSP00000490074.1:n.*1288G>C
ENST00000637849.1:n.1651G>C
ENST00000637892.1:n.1791G>C
ENST00000371068.9:c.1587G>C	ENSP00000360107.4:p.Ala529=
ENST00000480623.5:c.*2007G>C	ENSP00000434498.1:n.*2007G>C
ENST00000538167.2:c.1530G>C	ENSP00000444521.1:p.Ala510=
NM_001172420.1:c.1530G>C	NP_001165891.1:p.Ala510=
NM_018100.3:c.1587G>C	NP_060570.2:p.Ala529=
NR_033327.1:n.3059G>C
NM_018100.4:c.1587G>C MANE Select	NP_060570.2:p.Ala529=
NM_001172420.2:c.1530G>C	NP_001165891.1:p.Ala510=
NR_033327.2:n.2913G>C