Canonical Allele Identifier: CA364456996

Gene: EFHC1

Linked Data

• gnomAD v4: 6-52479073-G-C
• MyVariant Identifiers: chr6:g.52343871G>C (hg19) ; chr6:g.52479073G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479073G>C , CM000668.2:g.52479073G>C	GRCh38
NC_000006.11:g.52343871G>C , CM000668.1:g.52343871G>C	GRCh37
NC_000006.10:g.52451830G>C	NCBI36
NG_016760.1:g.63878G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1315G>C MANE Select	ENSP00000360107.4:p.Val439Leu
ENST00000480623.6:c.1315G>C	ENSP00000434498.2:p.Val439Leu
ENST00000635760.1:c.991G>C	ENSP00000489765.1:p.Val331Leu
ENST00000635812.1:c.*616G>C	ENSP00000490859.1:n.*616G>C
ENST00000635866.1:c.*1184G>C	ENSP00000489866.1:n.*1184G>C
ENST00000635911.1:n.2833G>C
ENST00000635984.1:c.991G>C	ENSP00000489921.1:p.Val331Leu
ENST00000635996.1:c.1315G>C	ENSP00000490256.1:p.Val439Leu
ENST00000636107.1:c.1315G>C	ENSP00000489680.1:p.Val439Leu
ENST00000636311.1:n.1209G>C
ENST00000636343.1:c.981G>C
ENST00000636379.1:c.1027G>C	ENSP00000490622.1:p.Val343Leu
ENST00000636398.1:c.1015G>C	ENSP00000489654.1:n.1015G>C
ENST00000636489.1:c.1258G>C	ENSP00000489998.1:p.Val420Leu
ENST00000636616.1:n.895-19G>C
ENST00000636702.1:c.1285G>C	ENSP00000489623.1:p.Val429Leu
ENST00000636954.1:c.1258G>C	ENSP00000489966.1:p.Val420Leu
ENST00000637089.1:c.1315G>C	ENSP00000489854.1:p.Val439Leu
ENST00000637121.1:n.1117G>C
ENST00000637263.1:c.1315G>C	ENSP00000489700.1:p.Val439Leu
ENST00000637340.1:n.3240G>C
ENST00000637353.1:c.1315G>C	ENSP00000490441.1:p.Val439Leu
ENST00000637602.1:c.*1016G>C	ENSP00000490074.1:n.*1016G>C
ENST00000637849.1:n.1379G>C
ENST00000637874.1:c.260G>C	ENSP00000490348.1:n.260G>C
ENST00000637892.1:n.1519G>C
ENST00000371068.9:c.1315G>C	ENSP00000360107.4:p.Val439Leu
ENST00000480623.5:c.*1735G>C	ENSP00000434498.1:n.*1735G>C
ENST00000538167.2:c.1258G>C	ENSP00000444521.1:p.Val420Leu
NM_001172420.1:c.1258G>C	NP_001165891.1:p.Val420Leu
NM_018100.3:c.1315G>C	NP_060570.2:p.Val439Leu
NR_033327.1:n.2787G>C
NM_018100.4:c.1315G>C MANE Select	NP_060570.2:p.Val439Leu
NM_001172420.2:c.1258G>C	NP_001165891.1:p.Val420Leu
NR_033327.2:n.2641G>C