Canonical Allele Identifier: CA7373215

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714412G>A , CM000676.2:g.104714412G>A	GRCh38
NC_000014.8:g.105180749G>A , CM000676.1:g.105180749G>A	GRCh37
NC_000014.7:g.104251794G>A	NCBI36
NG_027684.1:g.29807G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3250G>A MANE Select	NP_071934.3:p.Asp1084Asn
ENST00000392634.9:c.3250G>A MANE Select	ENSP00000376410.4:p.Asp1084Asn
NM_001031714.3:c.3250G>A	NP_001026884.3:p.Asp1084Asn
NM_001031714.4:c.3250G>A	NP_001026884.3:p.Asp1084Asn
NM_022489.3:c.3250G>A	NP_071934.3:p.Asp1084Asn
ENST00000252527.8:c.1654G>A	ENSP00000252527.8:p.Asp552Asn
ENST00000330634.11:c.3250G>A	ENSP00000376406.3:p.Asp1084Asn
ENST00000392634.8:c.3250G>A	ENSP00000376410.4:p.Asp1084Asn
ENST00000617571.4:c.-884G>A	ENSP00000483829.1:n.-884G>A
ENST00000617571.5:c.3246G>A	ENSP00000483829.2:n.3246G>A
ENST00000674520.1:c.3245G>A	ENSP00000502593.1:n.3245G>A
ENST00000674631.1:c.1288G>A	ENSP00000502830.1:p.Asp430Asn
ENST00000674662.1:c.3254G>A	ENSP00000501895.1:n.3254G>A
ENST00000674757.1:c.3255G>A	ENSP00000502202.1:n.3255G>A
ENST00000674822.1:c.3134G>A	ENSP00000501552.1:n.3134G>A
ENST00000674846.1:c.3245G>A	ENSP00000502431.1:n.3245G>A
ENST00000674857.1:c.3239G>A	ENSP00000501687.1:n.3239G>A
ENST00000674960.1:c.3108G>A	ENSP00000501841.1:n.3108G>A
ENST00000674991.1:c.2500G>A	ENSP00000502004.1:p.Asp834Asn
ENST00000675207.1:c.3346G>A	ENSP00000502644.1:p.Asp1116Asn
ENST00000675329.1:c.3226G>A	ENSP00000502287.1:p.Asp1076Asn
ENST00000675481.1:c.3250G>A	ENSP00000502723.1:p.Asp1084Asn
ENST00000675583.1:c.3179G>A	ENSP00000501740.1:n.3179G>A
ENST00000675603.1:n.490G>A
ENST00000675638.1:c.3169G>A	ENSP00000501647.1:p.Asp1057Asn
ENST00000675724.1:c.3188G>A	ENSP00000502576.1:n.3188G>A
ENST00000675771.1:c.2513G>A	ENSP00000502104.1:n.2513G>A
ENST00000675797.1:c.2655G>A	ENSP00000502023.1:n.2655G>A
ENST00000675809.1:c.3305G>A	ENSP00000502587.1:n.3305G>A
ENST00000675930.1:c.3233+17G>A	ENSP00000502456.1:n.3233+17G>A
ENST00000675980.1:c.3268G>A	ENSP00000502520.1:p.Asp1090Asn
ENST00000676016.1:c.3149G>A	ENSP00000502412.1:n.3149G>A
ENST00000676366.1:c.3233+17G>A	ENSP00000501605.1:n.3233+17G>A
XM_005268004.3:c.3346G>A	XP_005268061.1:p.Asp1116Asn
XM_005268004.4:c.3346G>A	XP_005268061.1:p.Asp1116Asn
XM_005268005.3:c.3346G>A	XP_005268062.1:p.Asp1116Asn
XM_005268005.4:c.3346G>A	XP_005268062.1:p.Asp1116Asn
XM_017021595.1:c.3346G>A	XP_016877084.1:p.Asp1116Asn
XR_943507.1:n.3475G>A