Canonical Allele Identifier: CA391226291

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104715323T>C , CM000676.2:g.104715323T>C	GRCh38
NC_000014.8:g.105181660T>C , CM000676.1:g.105181660T>C	GRCh37
NC_000014.7:g.104252705T>C	NCBI36
NG_027684.1:g.30718T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3734T>C MANE Select	NP_071934.3:p.Leu1245Pro
ENST00000392634.9:c.3734T>C MANE Select	ENSP00000376410.4:p.Leu1245Pro
NM_001031714.3:c.3694+467T>C	NP_001026884.3:n.3694+467T>C
NM_001031714.4:c.3694+467T>C	NP_001026884.3:n.3694+467T>C
NM_022489.3:c.3734T>C	NP_071934.3:p.Leu1245Pro
ENST00000252527.8:c.2138T>C	ENSP00000252527.8:p.Leu713Pro
ENST00000330634.11:c.3694+467T>C	ENSP00000376406.3:n.3694+467T>C
ENST00000392634.8:c.3734T>C	ENSP00000376410.4:p.Leu1245Pro
ENST00000617571.4:c.-400T>C	ENSP00000483829.1:n.-400T>C
ENST00000617571.5:c.3730T>C	ENSP00000483829.2:n.3730T>C
ENST00000674631.1:c.2199T>C	ENSP00000502830.1:n.2199T>C
ENST00000674662.1:c.3738T>C	ENSP00000501895.1:n.3738T>C
ENST00000674686.1:c.40T>C
ENST00000674757.1:c.3739T>C	ENSP00000502202.1:n.3739T>C
ENST00000675207.1:c.3830T>C	ENSP00000502644.1:p.Leu1277Pro
ENST00000675329.1:c.3710T>C	ENSP00000502287.1:p.Leu1237Pro
ENST00000675424.1:c.40T>C
ENST00000675481.1:c.3737T>C	ENSP00000502723.1:p.Leu1246Pro
ENST00000675638.1:c.3653T>C	ENSP00000501647.1:p.Leu1218Pro
ENST00000675930.1:c.3622T>C	ENSP00000502456.1:n.3622T>C
ENST00000675980.1:c.3752T>C	ENSP00000502520.1:p.Leu1251Pro
ENST00000676366.1:c.3541T>C	ENSP00000501605.1:n.3541T>C
XM_005268004.3:c.3830T>C	XP_005268061.1:p.Leu1277Pro
XM_005268004.4:c.3830T>C	XP_005268061.1:p.Leu1277Pro
XM_005268005.3:c.3790+467T>C	XP_005268062.1:n.3790+467T>C
XM_005268005.4:c.3790+467T>C	XP_005268062.1:n.3790+467T>C
XM_017021595.1:c.3830T>C	XP_016877084.1:p.Leu1277Pro
XR_943507.1:n.3959T>C