Canonical Allele Identifier: CA7373341

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714835C>T , CM000676.2:g.104714835C>T	GRCh38
NC_000014.8:g.105181172C>T , CM000676.1:g.105181172C>T	GRCh37
NC_000014.7:g.104252217C>T	NCBI36
NG_027684.1:g.30230C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3673C>T MANE Select	NP_071934.3:p.Arg1225Cys
ENST00000392634.9:c.3673C>T MANE Select	ENSP00000376410.4:p.Arg1225Cys
NM_001031714.3:c.3673C>T	NP_001026884.3:p.Arg1225Cys
NM_001031714.4:c.3673C>T	NP_001026884.3:p.Arg1225Cys
NM_022489.3:c.3673C>T	NP_071934.3:p.Arg1225Cys
ENST00000252527.8:c.2077C>T	ENSP00000252527.8:p.Arg693Cys
ENST00000330634.11:c.3673C>T	ENSP00000376406.3:p.Arg1225Cys
ENST00000392634.8:c.3673C>T	ENSP00000376410.4:p.Arg1225Cys
ENST00000617571.4:c.-461C>T	ENSP00000483829.1:n.-461C>T
ENST00000617571.5:c.3669C>T	ENSP00000483829.2:n.3669C>T
ENST00000674520.1:c.3668C>T	ENSP00000502593.1:n.3668C>T
ENST00000674631.1:c.1711C>T	ENSP00000502830.1:p.Arg571Cys
ENST00000674662.1:c.3677C>T	ENSP00000501895.1:n.3677C>T
ENST00000674757.1:c.3678C>T	ENSP00000502202.1:n.3678C>T
ENST00000674822.1:c.3557C>T	ENSP00000501552.1:n.3557C>T
ENST00000674846.1:c.3668C>T	ENSP00000502431.1:n.3668C>T
ENST00000674857.1:c.3662C>T	ENSP00000501687.1:n.3662C>T
ENST00000674960.1:c.3531C>T	ENSP00000501841.1:n.3531C>T
ENST00000674991.1:c.2923C>T	ENSP00000502004.1:p.Arg975Cys
ENST00000675207.1:c.3769C>T	ENSP00000502644.1:p.Arg1257Cys
ENST00000675329.1:c.3649C>T	ENSP00000502287.1:p.Arg1217Cys
ENST00000675481.1:c.3673C>T	ENSP00000502723.1:p.Arg1225Cys
ENST00000675583.1:c.3602C>T	ENSP00000501740.1:n.3602C>T
ENST00000675603.1:n.913C>T
ENST00000675638.1:c.3592C>T	ENSP00000501647.1:p.Arg1198Cys
ENST00000675724.1:c.3611C>T	ENSP00000502576.1:n.3611C>T
ENST00000675771.1:c.2936C>T	ENSP00000502104.1:n.2936C>T
ENST00000675797.1:c.3078C>T	ENSP00000502023.1:n.3078C>T
ENST00000675809.1:c.3728C>T	ENSP00000502587.1:n.3728C>T
ENST00000675930.1:c.3561C>T	ENSP00000502456.1:n.3561C>T
ENST00000675980.1:c.3691C>T	ENSP00000502520.1:p.Arg1231Cys
ENST00000676016.1:c.3572C>T	ENSP00000502412.1:n.3572C>T
ENST00000676366.1:c.3480C>T	ENSP00000501605.1:n.3480C>T
XM_005268004.3:c.3769C>T	XP_005268061.1:p.Arg1257Cys
XM_005268004.4:c.3769C>T	XP_005268061.1:p.Arg1257Cys
XM_005268005.3:c.3769C>T	XP_005268062.1:p.Arg1257Cys
XM_005268005.4:c.3769C>T	XP_005268062.1:p.Arg1257Cys
XM_017021595.1:c.3769C>T	XP_016877084.1:p.Arg1257Cys
XR_943507.1:n.3898C>T