Canonical Allele Identifier: CA7373314

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714760G>A , CM000676.2:g.104714760G>A	GRCh38
NC_000014.8:g.105181097G>A , CM000676.1:g.105181097G>A	GRCh37
NC_000014.7:g.104252142G>A	NCBI36
NG_027684.1:g.30155G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3598G>A MANE Select	NP_071934.3:p.Asp1200Asn
ENST00000392634.9:c.3598G>A MANE Select	ENSP00000376410.4:p.Asp1200Asn
NM_001031714.3:c.3598G>A	NP_001026884.3:p.Asp1200Asn
NM_001031714.4:c.3598G>A	NP_001026884.3:p.Asp1200Asn
NM_022489.3:c.3598G>A	NP_071934.3:p.Asp1200Asn
ENST00000252527.8:c.2002G>A	ENSP00000252527.8:p.Asp668Asn
ENST00000330634.11:c.3598G>A	ENSP00000376406.3:p.Asp1200Asn
ENST00000392634.8:c.3598G>A	ENSP00000376410.4:p.Asp1200Asn
ENST00000617571.4:c.-536G>A	ENSP00000483829.1:n.-536G>A
ENST00000617571.5:c.3594G>A	ENSP00000483829.2:n.3594G>A
ENST00000674520.1:c.3593G>A	ENSP00000502593.1:n.3593G>A
ENST00000674631.1:c.1636G>A	ENSP00000502830.1:p.Asp546Asn
ENST00000674662.1:c.3602G>A	ENSP00000501895.1:n.3602G>A
ENST00000674757.1:c.3603G>A	ENSP00000502202.1:n.3603G>A
ENST00000674822.1:c.3482G>A	ENSP00000501552.1:n.3482G>A
ENST00000674846.1:c.3593G>A	ENSP00000502431.1:n.3593G>A
ENST00000674857.1:c.3587G>A	ENSP00000501687.1:n.3587G>A
ENST00000674960.1:c.3456G>A	ENSP00000501841.1:n.3456G>A
ENST00000674991.1:c.2848G>A	ENSP00000502004.1:p.Asp950Asn
ENST00000675207.1:c.3694G>A	ENSP00000502644.1:p.Asp1232Asn
ENST00000675329.1:c.3574G>A	ENSP00000502287.1:p.Asp1192Asn
ENST00000675481.1:c.3598G>A	ENSP00000502723.1:p.Asp1200Asn
ENST00000675583.1:c.3527G>A	ENSP00000501740.1:n.3527G>A
ENST00000675603.1:n.838G>A
ENST00000675638.1:c.3517G>A	ENSP00000501647.1:p.Asp1173Asn
ENST00000675724.1:c.3536G>A	ENSP00000502576.1:n.3536G>A
ENST00000675771.1:c.2861G>A	ENSP00000502104.1:n.2861G>A
ENST00000675797.1:c.3003G>A	ENSP00000502023.1:n.3003G>A
ENST00000675809.1:c.3653G>A	ENSP00000502587.1:n.3653G>A
ENST00000675930.1:c.3486G>A	ENSP00000502456.1:n.3486G>A
ENST00000675980.1:c.3616G>A	ENSP00000502520.1:p.Asp1206Asn
ENST00000676016.1:c.3497G>A	ENSP00000502412.1:n.3497G>A
ENST00000676366.1:c.3405G>A	ENSP00000501605.1:n.3405G>A
XM_005268004.3:c.3694G>A	XP_005268061.1:p.Asp1232Asn
XM_005268004.4:c.3694G>A	XP_005268061.1:p.Asp1232Asn
XM_005268005.3:c.3694G>A	XP_005268062.1:p.Asp1232Asn
XM_005268005.4:c.3694G>A	XP_005268062.1:p.Asp1232Asn
XM_017021595.1:c.3694G>A	XP_016877084.1:p.Asp1232Asn
XR_943507.1:n.3823G>A