Canonical Allele Identifier: CA363828355
Community Standard Title: NM_016135.4(ETV7):c.718G>A (p.Glu240Lys)
Gene: ETV7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36369018C>T , CM000668.2:g.36369018C>T GRCh38
NC_000006.11:g.36336795C>T , CM000668.1:g.36336795C>T GRCh37
NC_000006.10:g.36444773C>T NCBI36
NG_029211.1:g.23783G>A

Transcript Alleles

HGVS Amino-acid Change
NM_016135.4:c.718G>A MANE Select NP_057219.1:p.Glu240Lys
ENST00000340181.9:c.718G>A MANE Select ENSP00000341843.4:p.Glu240Lys
NM_001207035.1:c.718G>A NP_001193964.1:p.Glu240Lys
NM_001207035.2:c.718G>A NP_001193964.1:p.Glu240Lys
NM_001207036.1:c.553G>A NP_001193965.1:p.Glu185Lys
NM_001207036.2:c.553G>A NP_001193965.1:p.Glu185Lys
NM_001207037.1:c.541G>A NP_001193966.1:p.Glu181Lys
NM_001207037.2:c.541G>A NP_001193966.1:p.Glu181Lys
NM_001207038.1:c.487G>A NP_001193967.1:p.Glu163Lys
NM_001207038.2:c.487G>A NP_001193967.1:p.Glu163Lys
NM_001207039.1:c.553G>A NP_001193968.1:p.Glu185Lys
NM_001207039.2:c.553G>A NP_001193968.1:p.Glu185Lys
NM_001207040.1:c.475G>A NP_001193969.1:p.Glu159Lys
NM_001207040.2:c.475G>A NP_001193969.1:p.Glu159Lys
NM_001207041.1:c.265G>A NP_001193970.1:p.Glu89Lys
NM_001207041.2:c.265G>A NP_001193970.1:p.Glu89Lys
NM_016135.3:c.718G>A NP_057219.1:p.Glu240Lys
ENST00000339796.9:c.718G>A ENSP00000342260.5:p.Glu240Lys
ENST00000340181.8:c.718G>A ENSP00000341843.4:p.Glu240Lys
ENST00000373737.8:c.487G>A ENSP00000362842.4:p.Glu163Lys
ENST00000373738.4:c.553G>A ENSP00000362843.1:p.Glu185Lys
ENST00000538992.3:c.265G>A ENSP00000440592.1:p.Glu89Lys
ENST00000615781.4:c.541G>A ENSP00000481885.1:p.Glu181Lys
ENST00000620358.4:c.475G>A ENSP00000484485.1:p.Glu159Lys
ENST00000627426.2:c.553G>A ENSP00000486712.1:p.Glu185Lys
XM_011514659.1:c.670G>A XP_011512961.1:p.Glu224Lys