Canonical Allele Identifier: CA8592396

Gene: DHX8 ETV4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43533964G>C , CM000679.2:g.43533964G>C	GRCh38
NC_000017.10:g.41611332G>C , CM000679.1:g.41611332G>C	GRCh37
NC_000017.9:g.38966858G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001079675.5:c.278C>G (ETV4) MANE Select	NP_001073143.1:p.Thr93Ser
ENST00000319349.10:c.278C>G (ETV4) MANE Select	ENSP00000321835.4:p.Thr93Ser
NM_001079675.2:c.278C>G (ETV4)	NP_001073143.1:p.Thr93Ser
NM_001079675.3:c.278C>G (ETV4)	NP_001073143.1:p.Thr93Ser
NM_001261437.1:c.161C>G (ETV4)	NP_001248366.1:p.Thr54Ser
NM_001261437.3:c.161C>G (ETV4)	NP_001248366.1:p.Thr54Ser
NM_001261438.1:c.161C>G (ETV4)	NP_001248367.1:p.Thr54Ser
NM_001261438.3:c.161C>G (ETV4)	NP_001248367.1:p.Thr54Ser
NM_001322219.1:c.3444-2448G>C (DHX8)	NP_001309148.1:n.3444-2448G>C
NM_001322219.2:c.3444-2448G>C (DHX8)	NP_001309148.1:n.3444-2448G>C
NM_001369366.2:c.278C>G (ETV4)	NP_001356295.1:p.Thr93Ser
NM_001369367.2:c.275C>G (ETV4)	NP_001356296.1:p.Thr92Ser
NM_001369368.2:c.278C>G (ETV4)	NP_001356297.1:p.Thr93Ser
NM_001986.2:c.278C>G (ETV4)	NP_001977.1:p.Thr93Ser
NM_001986.4:c.278C>G (ETV4)	NP_001977.1:p.Thr93Ser
ENST00000319349.9:c.278C>G (ETV4)	ENSP00000321835.4:p.Thr93Ser
ENST00000393664.6:c.278C>G (ETV4)	ENSP00000377273.1:p.Thr93Ser
ENST00000538265.5:c.161C>G (ETV4)	ENSP00000443846.1:p.Thr54Ser
ENST00000545089.5:c.278C>G (ETV4)	ENSP00000441749.1:p.Thr93Ser
ENST00000545954.5:c.161C>G (ETV4)	ENSP00000440023.1:p.Thr54Ser
ENST00000585508.5:n.650C>G (ETV4)
ENST00000589898.1:c.351-2448G>C (DHX8)	ENSP00000466900.1:n.351-2448G>C
ENST00000589898.2:c.3444-2448G>C (DHX8)	ENSP00000466900.2:n.3444-2448G>C
ENST00000590236.5:n.339C>G (ETV4)
ENST00000591713.5:c.278C>G (ETV4)	ENSP00000465718.1:p.Thr93Ser
ENST00000650571.1:c.*339-2448G>C (DHX8)	ENSP00000496923.1:n.*339-2448G>C
XM_011524511.1:c.281C>G (ETV4)	XP_011522813.1:p.Thr94Ser
XM_011524512.1:c.281C>G (ETV4)	XP_011522814.1:p.Thr94Ser
XM_011524513.1:c.281C>G (ETV4)	XP_011522815.1:p.Thr94Ser
XM_011524514.1:c.-246C>G (ETV4)	XP_011522816.1:n.-246C>G
XM_017024349.1:c.278C>G (ETV4)	XP_016879838.1:p.Thr93Ser
XM_024450644.1:c.-246C>G (ETV4)	XP_024306412.1:n.-246C>G