Canonical Allele Identifier: CA7698221

Gene: EFL1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.82238289A>G , CM000677.2:g.82238289A>G	GRCh38
NC_000015.9:g.82530630A>G , CM000677.1:g.82530630A>G	GRCh37
NC_000015.8:g.80317685A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024580.6:c.731+18T>C MANE Select	NP_078856.4:n.731+18T>C
ENST00000268206.12:c.731+18T>C MANE Select	ENSP00000268206.7:n.731+18T>C
NM_001040610.2:c.578+18T>C	NP_001035700.1:n.578+18T>C
NM_001040610.3:c.578+18T>C	NP_001035700.1:n.578+18T>C
NM_001322844.1:c.-59+18T>C	NP_001309773.1:n.-59+18T>C
NM_001322844.2:c.-59+18T>C	NP_001309773.1:n.-59+18T>C
NM_001322845.1:c.731+18T>C	NP_001309774.1:n.731+18T>C
NM_001322845.2:c.731+18T>C	NP_001309774.1:n.731+18T>C
NM_024580.5:c.731+18T>C	NP_078856.4:n.731+18T>C
NR_136410.1:n.900+18T>C
NR_136410.2:n.871+18T>C
ENST00000268206.11:c.731+18T>C	ENSP00000268206.7:n.731+18T>C
ENST00000359445.7:c.578+18T>C	ENSP00000352418.3:n.578+18T>C
ENST00000359445.8:c.578+18T>C	ENSP00000352418.3:n.578+18T>C
ENST00000557939.2:c.593+18T>C	ENSP00000452825.2:n.593+18T>C
ENST00000561389.2:c.*469+18T>C	ENSP00000452687.1:n.*469+18T>C
ENST00000650113.1:c.731+18T>C	ENSP00000497919.1:n.731+18T>C
ENST00000696330.1:c.731+18T>C	ENSP00000512564.1:n.731+18T>C
ENST00000696336.1:c.731+18T>C	ENSP00000512568.1:n.731+18T>C
ENST00000696337.1:n.544+18T>C
XM_011521998.1:c.731+18T>C	XP_011520300.1:n.731+18T>C
XM_011521999.1:c.-59+18T>C	XP_011520301.1:n.-59+18T>C
XM_011522000.1:c.-59+2129T>C	XP_011520302.1:n.-59+2129T>C
XR_931901.1:n.900+18T>C