Canonical Allele Identifier: CA7697593
Gene: EFL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 522584
dbSNP Id: rs376095522

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.82130452C>T , CM000677.2:g.82130452C>T GRCh38
NC_000015.9:g.82422793C>T , CM000677.1:g.82422793C>T GRCh37
NC_000015.8:g.80209848C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359445.8:c.3131G>A ENSP00000352418.3:p.Arg1044Gln
ENST00000557939.2:c.3146G>A ENSP00000452825.2:p.Arg1049Gln
ENST00000561331.2:n.2665G>A
ENST00000561340.2:c.1397G>A ENSP00000512528.1:p.Arg466Gln
ENST00000561389.2:c.*3022G>A ENSP00000452687.1:n.*3022G>A
ENST00000696327.1:c.1547G>A ENSP00000512563.1:p.Arg516Gln
ENST00000696329.1:n.2868G>A
ENST00000696330.1:c.3284G>A ENSP00000512564.1:p.Arg1095Gln
ENST00000696336.1:c.*238G>A ENSP00000512568.1:n.*238G>A
ENST00000696337.1:n.3097G>A
ENST00000268206.12:c.3284G>A MANE Select ENSP00000268206.7:p.Arg1095Gln
ENST00000650113.1:c.*2190G>A ENSP00000497919.1:n.*2190G>A
ENST00000268206.11:c.3284G>A ENSP00000268206.7:p.Arg1095Gln
ENST00000359445.7:c.3131G>A ENSP00000352418.3:p.Arg1044Gln
NM_001040610.2:c.3131G>A NP_001035700.1:p.Arg1044Gln
NM_024580.5:c.3284G>A NP_078856.4:p.Arg1095Gln
XM_011521998.1:c.3284G>A XP_011520300.1:p.Arg1095Gln
XM_011521999.1:c.2495G>A XP_011520301.1:p.Arg832Gln
XM_011522000.1:c.2495G>A XP_011520302.1:p.Arg832Gln
XR_931901.1:n.3467G>A
NM_001322844.1:c.2495G>A NP_001309773.1:p.Arg832Gln
NM_001322845.1:c.3284G>A NP_001309774.1:p.Arg1095Gln
NR_136410.1:n.3467G>A
XM_024450048.1:c.1676G>A XP_024305816.1:p.Arg559Gln
NM_024580.6:c.3284G>A MANE Select NP_078856.4:p.Arg1095Gln
NM_001040610.3:c.3131G>A NP_001035700.1:p.Arg1044Gln
NM_001322844.2:c.2495G>A NP_001309773.1:p.Arg832Gln
NM_001322845.2:c.3284G>A NP_001309774.1:p.Arg1095Gln
NR_136410.2:n.3438G>A