Canonical Allele Identifier: CA7373321

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714773C>T , CM000676.2:g.104714773C>T	GRCh38
NC_000014.8:g.105181110C>T , CM000676.1:g.105181110C>T	GRCh37
NC_000014.7:g.104252155C>T	NCBI36
NG_027684.1:g.30168C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3611C>T MANE Select	NP_071934.3:p.Ser1204Leu
ENST00000392634.9:c.3611C>T MANE Select	ENSP00000376410.4:p.Ser1204Leu
NM_001031714.3:c.3611C>T	NP_001026884.3:p.Ser1204Leu
NM_001031714.4:c.3611C>T	NP_001026884.3:p.Ser1204Leu
NM_022489.3:c.3611C>T	NP_071934.3:p.Ser1204Leu
ENST00000252527.8:c.2015C>T	ENSP00000252527.8:p.Ser672Leu
ENST00000330634.11:c.3611C>T	ENSP00000376406.3:p.Ser1204Leu
ENST00000392634.8:c.3611C>T	ENSP00000376410.4:p.Ser1204Leu
ENST00000617571.4:c.-523C>T	ENSP00000483829.1:n.-523C>T
ENST00000617571.5:c.3607C>T	ENSP00000483829.2:n.3607C>T
ENST00000674520.1:c.3606C>T	ENSP00000502593.1:n.3606C>T
ENST00000674631.1:c.1649C>T	ENSP00000502830.1:p.Ser550Leu
ENST00000674662.1:c.3615C>T	ENSP00000501895.1:n.3615C>T
ENST00000674757.1:c.3616C>T	ENSP00000502202.1:n.3616C>T
ENST00000674822.1:c.3495C>T	ENSP00000501552.1:n.3495C>T
ENST00000674846.1:c.3606C>T	ENSP00000502431.1:n.3606C>T
ENST00000674857.1:c.3600C>T	ENSP00000501687.1:n.3600C>T
ENST00000674960.1:c.3469C>T	ENSP00000501841.1:n.3469C>T
ENST00000674991.1:c.2861C>T	ENSP00000502004.1:p.Ser954Leu
ENST00000675207.1:c.3707C>T	ENSP00000502644.1:p.Ser1236Leu
ENST00000675329.1:c.3587C>T	ENSP00000502287.1:p.Ser1196Leu
ENST00000675481.1:c.3611C>T	ENSP00000502723.1:p.Ser1204Leu
ENST00000675583.1:c.3540C>T	ENSP00000501740.1:n.3540C>T
ENST00000675603.1:n.851C>T
ENST00000675638.1:c.3530C>T	ENSP00000501647.1:p.Ser1177Leu
ENST00000675724.1:c.3549C>T	ENSP00000502576.1:n.3549C>T
ENST00000675771.1:c.2874C>T	ENSP00000502104.1:n.2874C>T
ENST00000675797.1:c.3016C>T	ENSP00000502023.1:n.3016C>T
ENST00000675809.1:c.3666C>T	ENSP00000502587.1:n.3666C>T
ENST00000675930.1:c.3499C>T	ENSP00000502456.1:n.3499C>T
ENST00000675980.1:c.3629C>T	ENSP00000502520.1:p.Ser1210Leu
ENST00000676016.1:c.3510C>T	ENSP00000502412.1:n.3510C>T
ENST00000676366.1:c.3418C>T	ENSP00000501605.1:n.3418C>T
XM_005268004.3:c.3707C>T	XP_005268061.1:p.Ser1236Leu
XM_005268004.4:c.3707C>T	XP_005268061.1:p.Ser1236Leu
XM_005268005.3:c.3707C>T	XP_005268062.1:p.Ser1236Leu
XM_005268005.4:c.3707C>T	XP_005268062.1:p.Ser1236Leu
XM_017021595.1:c.3707C>T	XP_016877084.1:p.Ser1236Leu
XR_943507.1:n.3836C>T