Canonical Allele Identifier: CA391225235

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714730G>A , CM000676.2:g.104714730G>A	GRCh38
NC_000014.8:g.105181067G>A , CM000676.1:g.105181067G>A	GRCh37
NC_000014.7:g.104252112G>A	NCBI36
NG_027684.1:g.30125G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3568G>A MANE Select	NP_071934.3:p.Asp1190Asn
ENST00000392634.9:c.3568G>A MANE Select	ENSP00000376410.4:p.Asp1190Asn
NM_001031714.3:c.3568G>A	NP_001026884.3:p.Asp1190Asn
NM_001031714.4:c.3568G>A	NP_001026884.3:p.Asp1190Asn
NM_022489.3:c.3568G>A	NP_071934.3:p.Asp1190Asn
ENST00000252527.8:c.1972G>A	ENSP00000252527.8:p.Asp658Asn
ENST00000330634.11:c.3568G>A	ENSP00000376406.3:p.Asp1190Asn
ENST00000392634.8:c.3568G>A	ENSP00000376410.4:p.Asp1190Asn
ENST00000617571.4:c.-566G>A	ENSP00000483829.1:n.-566G>A
ENST00000617571.5:c.3564G>A	ENSP00000483829.2:n.3564G>A
ENST00000674520.1:c.3563G>A	ENSP00000502593.1:n.3563G>A
ENST00000674631.1:c.1606G>A	ENSP00000502830.1:p.Asp536Asn
ENST00000674662.1:c.3572G>A	ENSP00000501895.1:n.3572G>A
ENST00000674757.1:c.3573G>A	ENSP00000502202.1:n.3573G>A
ENST00000674822.1:c.3452G>A	ENSP00000501552.1:n.3452G>A
ENST00000674846.1:c.3563G>A	ENSP00000502431.1:n.3563G>A
ENST00000674857.1:c.3557G>A	ENSP00000501687.1:n.3557G>A
ENST00000674960.1:c.3426G>A	ENSP00000501841.1:n.3426G>A
ENST00000674991.1:c.2818G>A	ENSP00000502004.1:p.Asp940Asn
ENST00000675207.1:c.3664G>A	ENSP00000502644.1:p.Asp1222Asn
ENST00000675329.1:c.3544G>A	ENSP00000502287.1:p.Asp1182Asn
ENST00000675481.1:c.3568G>A	ENSP00000502723.1:p.Asp1190Asn
ENST00000675583.1:c.3497G>A	ENSP00000501740.1:n.3497G>A
ENST00000675603.1:n.808G>A
ENST00000675638.1:c.3487G>A	ENSP00000501647.1:p.Asp1163Asn
ENST00000675724.1:c.3506G>A	ENSP00000502576.1:n.3506G>A
ENST00000675771.1:c.2831G>A	ENSP00000502104.1:n.2831G>A
ENST00000675797.1:c.2973G>A	ENSP00000502023.1:n.2973G>A
ENST00000675809.1:c.3623G>A	ENSP00000502587.1:n.3623G>A
ENST00000675930.1:c.3456G>A	ENSP00000502456.1:p.Trp1152Ter
ENST00000675980.1:c.3586G>A	ENSP00000502520.1:p.Asp1196Asn
ENST00000676016.1:c.3467G>A	ENSP00000502412.1:n.3467G>A
ENST00000676366.1:c.3375G>A	ENSP00000501605.1:p.Trp1125Ter
XM_005268004.3:c.3664G>A	XP_005268061.1:p.Asp1222Asn
XM_005268004.4:c.3664G>A	XP_005268061.1:p.Asp1222Asn
XM_005268005.3:c.3664G>A	XP_005268062.1:p.Asp1222Asn
XM_005268005.4:c.3664G>A	XP_005268062.1:p.Asp1222Asn
XM_017021595.1:c.3664G>A	XP_016877084.1:p.Asp1222Asn
XR_943507.1:n.3793G>A