Canonical Allele Identifier: CA7373177

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714244C>T , CM000676.2:g.104714244C>T	GRCh38
NC_000014.8:g.105180581C>T , CM000676.1:g.105180581C>T	GRCh37
NC_000014.7:g.104251626C>T	NCBI36
NG_027684.1:g.29639C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3082C>T MANE Select	NP_071934.3:p.Arg1028Cys
ENST00000392634.9:c.3082C>T MANE Select	ENSP00000376410.4:p.Arg1028Cys
NM_001031714.3:c.3082C>T	NP_001026884.3:p.Arg1028Cys
NM_001031714.4:c.3082C>T	NP_001026884.3:p.Arg1028Cys
NM_022489.3:c.3082C>T	NP_071934.3:p.Arg1028Cys
ENST00000252527.8:c.1486C>T	ENSP00000252527.8:p.Arg496Cys
ENST00000330634.11:c.3082C>T	ENSP00000376406.3:p.Arg1028Cys
ENST00000392634.8:c.3082C>T	ENSP00000376410.4:p.Arg1028Cys
ENST00000617571.4:c.-1052C>T	ENSP00000483829.1:n.-1052C>T
ENST00000617571.5:c.3078C>T	ENSP00000483829.2:p.Arg1026=
ENST00000674520.1:c.3077C>T	ENSP00000502593.1:n.3077C>T
ENST00000674631.1:c.1120C>T	ENSP00000502830.1:p.Arg374Cys
ENST00000674662.1:c.3086C>T	ENSP00000501895.1:n.3086C>T
ENST00000674757.1:c.3087C>T	ENSP00000502202.1:p.Arg1029=
ENST00000674822.1:c.2966C>T	ENSP00000501552.1:n.2966C>T
ENST00000674846.1:c.3077C>T	ENSP00000502431.1:n.3077C>T
ENST00000674857.1:c.3071C>T	ENSP00000501687.1:n.3071C>T
ENST00000674960.1:c.2940C>T	ENSP00000501841.1:n.2940C>T
ENST00000674991.1:c.2332C>T	ENSP00000502004.1:p.Arg778Cys
ENST00000675207.1:c.3178C>T	ENSP00000502644.1:p.Arg1060Cys
ENST00000675329.1:c.3058C>T	ENSP00000502287.1:p.Arg1020Cys
ENST00000675481.1:c.3082C>T	ENSP00000502723.1:p.Arg1028Cys
ENST00000675583.1:c.3011C>T	ENSP00000501740.1:n.3011C>T
ENST00000675603.1:n.322C>T
ENST00000675638.1:c.3041-40C>T	ENSP00000501647.1:n.3041-40C>T
ENST00000675724.1:c.3020C>T	ENSP00000502576.1:n.3020C>T
ENST00000675771.1:c.2345C>T	ENSP00000502104.1:n.2345C>T
ENST00000675797.1:c.2487C>T	ENSP00000502023.1:n.2487C>T
ENST00000675809.1:c.3137C>T	ENSP00000502587.1:n.3137C>T
ENST00000675930.1:c.3082C>T	ENSP00000502456.1:p.Arg1028Cys
ENST00000675980.1:c.3100C>T	ENSP00000502520.1:p.Arg1034Cys
ENST00000676016.1:c.2981C>T	ENSP00000502412.1:n.2981C>T
ENST00000676366.1:c.3082C>T	ENSP00000501605.1:p.Arg1028Cys
XM_005268004.3:c.3178C>T	XP_005268061.1:p.Arg1060Cys
XM_005268004.4:c.3178C>T	XP_005268061.1:p.Arg1060Cys
XM_005268005.3:c.3178C>T	XP_005268062.1:p.Arg1060Cys
XM_005268005.4:c.3178C>T	XP_005268062.1:p.Arg1060Cys
XM_017021595.1:c.3178C>T	XP_016877084.1:p.Arg1060Cys
XR_943507.1:n.3307C>T