Canonical Allele Identifier: CA7373192

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714316G>A , CM000676.2:g.104714316G>A	GRCh38
NC_000014.8:g.105180653G>A , CM000676.1:g.105180653G>A	GRCh37
NC_000014.7:g.104251698G>A	NCBI36
NG_027684.1:g.29711G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3154G>A MANE Select	NP_071934.3:p.Ala1052Thr
ENST00000392634.9:c.3154G>A MANE Select	ENSP00000376410.4:p.Ala1052Thr
NM_001031714.3:c.3154G>A	NP_001026884.3:p.Ala1052Thr
NM_001031714.4:c.3154G>A	NP_001026884.3:p.Ala1052Thr
NM_022489.3:c.3154G>A	NP_071934.3:p.Ala1052Thr
ENST00000252527.8:c.1558G>A	ENSP00000252527.8:p.Ala520Thr
ENST00000330634.11:c.3154G>A	ENSP00000376406.3:p.Ala1052Thr
ENST00000392634.8:c.3154G>A	ENSP00000376410.4:p.Ala1052Thr
ENST00000617571.4:c.-980G>A	ENSP00000483829.1:n.-980G>A
ENST00000617571.5:c.3150G>A	ENSP00000483829.2:n.3150G>A
ENST00000674520.1:c.3149G>A	ENSP00000502593.1:n.3149G>A
ENST00000674631.1:c.1192G>A	ENSP00000502830.1:p.Ala398Thr
ENST00000674662.1:c.3158G>A	ENSP00000501895.1:n.3158G>A
ENST00000674757.1:c.3159G>A	ENSP00000502202.1:n.3159G>A
ENST00000674822.1:c.3038G>A	ENSP00000501552.1:n.3038G>A
ENST00000674846.1:c.3149G>A	ENSP00000502431.1:n.3149G>A
ENST00000674857.1:c.3143G>A	ENSP00000501687.1:n.3143G>A
ENST00000674960.1:c.3012G>A	ENSP00000501841.1:n.3012G>A
ENST00000674991.1:c.2404G>A	ENSP00000502004.1:p.Ala802Thr
ENST00000675207.1:c.3250G>A	ENSP00000502644.1:p.Ala1084Thr
ENST00000675329.1:c.3130G>A	ENSP00000502287.1:p.Ala1044Thr
ENST00000675481.1:c.3154G>A	ENSP00000502723.1:p.Ala1052Thr
ENST00000675583.1:c.3083G>A	ENSP00000501740.1:n.3083G>A
ENST00000675603.1:n.394G>A
ENST00000675638.1:c.3073G>A	ENSP00000501647.1:p.Ala1025Thr
ENST00000675724.1:c.3092G>A	ENSP00000502576.1:n.3092G>A
ENST00000675771.1:c.2417G>A	ENSP00000502104.1:n.2417G>A
ENST00000675797.1:c.2559G>A	ENSP00000502023.1:n.2559G>A
ENST00000675809.1:c.3209G>A	ENSP00000502587.1:n.3209G>A
ENST00000675930.1:c.3154G>A	ENSP00000502456.1:p.Ala1052Thr
ENST00000675980.1:c.3172G>A	ENSP00000502520.1:p.Ala1058Thr
ENST00000676016.1:c.3053G>A	ENSP00000502412.1:n.3053G>A
ENST00000676366.1:c.3154G>A	ENSP00000501605.1:p.Ala1052Thr
XM_005268004.3:c.3250G>A	XP_005268061.1:p.Ala1084Thr
XM_005268004.4:c.3250G>A	XP_005268061.1:p.Ala1084Thr
XM_005268005.3:c.3250G>A	XP_005268062.1:p.Ala1084Thr
XM_005268005.4:c.3250G>A	XP_005268062.1:p.Ala1084Thr
XM_017021595.1:c.3250G>A	XP_016877084.1:p.Ala1084Thr
XR_943507.1:n.3379G>A