Canonical Allele Identifier: CA7373193

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714319G>A , CM000676.2:g.104714319G>A	GRCh38
NC_000014.8:g.105180656G>A , CM000676.1:g.105180656G>A	GRCh37
NC_000014.7:g.104251701G>A	NCBI36
NG_027684.1:g.29714G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3157G>A MANE Select	NP_071934.3:p.Val1053Met
ENST00000392634.9:c.3157G>A MANE Select	ENSP00000376410.4:p.Val1053Met
NM_001031714.3:c.3157G>A	NP_001026884.3:p.Val1053Met
NM_001031714.4:c.3157G>A	NP_001026884.3:p.Val1053Met
NM_022489.3:c.3157G>A	NP_071934.3:p.Val1053Met
ENST00000252527.8:c.1561G>A	ENSP00000252527.8:p.Val521Met
ENST00000330634.11:c.3157G>A	ENSP00000376406.3:p.Val1053Met
ENST00000392634.8:c.3157G>A	ENSP00000376410.4:p.Val1053Met
ENST00000617571.4:c.-977G>A	ENSP00000483829.1:n.-977G>A
ENST00000617571.5:c.3153G>A	ENSP00000483829.2:n.3153G>A
ENST00000674520.1:c.3152G>A	ENSP00000502593.1:n.3152G>A
ENST00000674631.1:c.1195G>A	ENSP00000502830.1:p.Val399Met
ENST00000674662.1:c.3161G>A	ENSP00000501895.1:n.3161G>A
ENST00000674757.1:c.3162G>A	ENSP00000502202.1:n.3162G>A
ENST00000674822.1:c.3041G>A	ENSP00000501552.1:n.3041G>A
ENST00000674846.1:c.3152G>A	ENSP00000502431.1:n.3152G>A
ENST00000674857.1:c.3146G>A	ENSP00000501687.1:n.3146G>A
ENST00000674960.1:c.3015G>A	ENSP00000501841.1:n.3015G>A
ENST00000674991.1:c.2407G>A	ENSP00000502004.1:p.Val803Met
ENST00000675207.1:c.3253G>A	ENSP00000502644.1:p.Val1085Met
ENST00000675329.1:c.3133G>A	ENSP00000502287.1:p.Val1045Met
ENST00000675481.1:c.3157G>A	ENSP00000502723.1:p.Val1053Met
ENST00000675583.1:c.3086G>A	ENSP00000501740.1:n.3086G>A
ENST00000675603.1:n.397G>A
ENST00000675638.1:c.3076G>A	ENSP00000501647.1:p.Val1026Met
ENST00000675724.1:c.3095G>A	ENSP00000502576.1:n.3095G>A
ENST00000675771.1:c.2420G>A	ENSP00000502104.1:n.2420G>A
ENST00000675797.1:c.2562G>A	ENSP00000502023.1:n.2562G>A
ENST00000675809.1:c.3212G>A	ENSP00000502587.1:n.3212G>A
ENST00000675930.1:c.3157G>A	ENSP00000502456.1:p.Val1053Met
ENST00000675980.1:c.3175G>A	ENSP00000502520.1:p.Val1059Met
ENST00000676016.1:c.3056G>A	ENSP00000502412.1:n.3056G>A
ENST00000676366.1:c.3157G>A	ENSP00000501605.1:p.Val1053Met
XM_005268004.3:c.3253G>A	XP_005268061.1:p.Val1085Met
XM_005268004.4:c.3253G>A	XP_005268061.1:p.Val1085Met
XM_005268005.3:c.3253G>A	XP_005268062.1:p.Val1085Met
XM_005268005.4:c.3253G>A	XP_005268062.1:p.Val1085Met
XM_017021595.1:c.3253G>A	XP_016877084.1:p.Val1085Met
XR_943507.1:n.3382G>A