Canonical Allele Identifier: CA7373289

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714681C>G , CM000676.2:g.104714681C>G	GRCh38
NC_000014.8:g.105181018C>G , CM000676.1:g.105181018C>G	GRCh37
NC_000014.7:g.104252063C>G	NCBI36
NG_027684.1:g.30076C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3519C>G MANE Select	NP_071934.3:p.Asp1173Glu
ENST00000392634.9:c.3519C>G MANE Select	ENSP00000376410.4:p.Asp1173Glu
NM_001031714.3:c.3519C>G	NP_001026884.3:p.Asp1173Glu
NM_001031714.4:c.3519C>G	NP_001026884.3:p.Asp1173Glu
NM_022489.3:c.3519C>G	NP_071934.3:p.Asp1173Glu
ENST00000252527.8:c.1923C>G	ENSP00000252527.8:p.Asp641Glu
ENST00000330634.11:c.3519C>G	ENSP00000376406.3:p.Asp1173Glu
ENST00000392634.8:c.3519C>G	ENSP00000376410.4:p.Asp1173Glu
ENST00000617571.4:c.-615C>G	ENSP00000483829.1:n.-615C>G
ENST00000617571.5:c.3515C>G	ENSP00000483829.2:n.3515C>G
ENST00000674520.1:c.3514C>G	ENSP00000502593.1:n.3514C>G
ENST00000674631.1:c.1557C>G	ENSP00000502830.1:p.Asp519Glu
ENST00000674662.1:c.3523C>G	ENSP00000501895.1:n.3523C>G
ENST00000674757.1:c.3524C>G	ENSP00000502202.1:n.3524C>G
ENST00000674822.1:c.3403C>G	ENSP00000501552.1:n.3403C>G
ENST00000674846.1:c.3514C>G	ENSP00000502431.1:n.3514C>G
ENST00000674857.1:c.3508C>G	ENSP00000501687.1:n.3508C>G
ENST00000674960.1:c.3377C>G	ENSP00000501841.1:n.3377C>G
ENST00000674991.1:c.2769C>G	ENSP00000502004.1:p.Asp923Glu
ENST00000675207.1:c.3615C>G	ENSP00000502644.1:p.Asp1205Glu
ENST00000675329.1:c.3495C>G	ENSP00000502287.1:p.Asp1165Glu
ENST00000675481.1:c.3519C>G	ENSP00000502723.1:p.Asp1173Glu
ENST00000675583.1:c.3448C>G	ENSP00000501740.1:n.3448C>G
ENST00000675603.1:n.759C>G
ENST00000675638.1:c.3438C>G	ENSP00000501647.1:p.Asp1146Glu
ENST00000675724.1:c.3457C>G	ENSP00000502576.1:n.3457C>G
ENST00000675771.1:c.2782C>G	ENSP00000502104.1:n.2782C>G
ENST00000675797.1:c.2924C>G	ENSP00000502023.1:n.2924C>G
ENST00000675809.1:c.3574C>G	ENSP00000502587.1:n.3574C>G
ENST00000675930.1:c.3407C>G	ENSP00000502456.1:p.Thr1136Arg
ENST00000675980.1:c.3537C>G	ENSP00000502520.1:p.Asp1179Glu
ENST00000676016.1:c.3418C>G	ENSP00000502412.1:n.3418C>G
ENST00000676366.1:c.3326C>G	ENSP00000501605.1:p.Thr1109Arg
XM_005268004.3:c.3615C>G	XP_005268061.1:p.Asp1205Glu
XM_005268004.4:c.3615C>G	XP_005268061.1:p.Asp1205Glu
XM_005268005.3:c.3615C>G	XP_005268062.1:p.Asp1205Glu
XM_005268005.4:c.3615C>G	XP_005268062.1:p.Asp1205Glu
XM_017021595.1:c.3615C>G	XP_016877084.1:p.Asp1205Glu
XR_943507.1:n.3744C>G