Canonical Allele Identifier: CA406110964
Community Standard Title: NM_006494.4(ERF):c.700G>A (p.Val234Ile)
Gene: ERF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42249412C>T , CM000681.2:g.42249412C>T GRCh38
NC_000019.9:g.42753564C>T , CM000681.1:g.42753564C>T GRCh37
NC_000019.8:g.47445404C>T NCBI36
NG_042802.1:g.10753G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006494.4:c.700G>A MANE Select NP_006485.2:p.Val234Ile
ENST00000222329.9:c.700G>A MANE Select ENSP00000222329.3:p.Val234Ile
NM_001301035.1:c.475G>A NP_001287964.1:p.Val159Ile
NM_001301035.2:c.475G>A NP_001287964.1:p.Val159Ile
NM_001308402.1:c.475G>A NP_001295331.1:p.Val159Ile
NM_001308402.2:c.475G>A NP_001295331.1:p.Val159Ile
NM_001312656.1:c.475G>A NP_001299585.1:p.Val159Ile
NM_001312656.2:c.475G>A NP_001299585.1:p.Val159Ile
NM_006494.3:c.700G>A NP_006485.2:p.Val234Ile
ENST00000222329.8:c.700G>A ENSP00000222329.3:p.Val234Ile
ENST00000440177.6:c.475G>A ENSP00000388173.2:p.Val159Ile
ENST00000594664.1:c.22+5566G>A ENSP00000470087.1:n.22+5566G>A
XM_011526612.1:c.475G>A XP_011524914.1:p.Val159Ile
XM_011526613.1:c.475G>A XP_011524915.1:p.Val159Ile
XM_017026468.1:c.475G>A XP_016881957.1:p.Val159Ile
XM_017026469.1:c.475G>A XP_016881958.1:p.Val159Ile