Canonical Allele Identifier: CA7373182

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714270T>C , CM000676.2:g.104714270T>C	GRCh38
NC_000014.8:g.105180607T>C , CM000676.1:g.105180607T>C	GRCh37
NC_000014.7:g.104251652T>C	NCBI36
NG_027684.1:g.29665T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.3108T>C MANE Select	ENSP00000376410.4:p.Leu1036=
ENST00000617571.5:c.3104T>C	ENSP00000483829.2:p.Leu1035Ser
ENST00000674520.1:c.3103T>C	ENSP00000502593.1:n.3103T>C
ENST00000674631.1:c.1146T>C	ENSP00000502830.1:p.Leu382=
ENST00000674662.1:c.3112T>C	ENSP00000501895.1:n.3112T>C
ENST00000674757.1:c.3113T>C	ENSP00000502202.1:p.Leu1038Ser
ENST00000674822.1:c.2992T>C	ENSP00000501552.1:n.2992T>C
ENST00000674846.1:c.3103T>C	ENSP00000502431.1:n.3103T>C
ENST00000674857.1:c.3097T>C	ENSP00000501687.1:n.3097T>C
ENST00000674960.1:c.2966T>C	ENSP00000501841.1:n.2966T>C
ENST00000674991.1:c.2358T>C	ENSP00000502004.1:p.Leu786=
ENST00000675207.1:c.3204T>C	ENSP00000502644.1:p.Leu1068=
ENST00000675329.1:c.3084T>C	ENSP00000502287.1:p.Leu1028=
ENST00000675481.1:c.3108T>C	ENSP00000502723.1:p.Leu1036=
ENST00000675583.1:c.3037T>C	ENSP00000501740.1:n.3037T>C
ENST00000675603.1:n.348T>C
ENST00000675638.1:c.3041-14T>C	ENSP00000501647.1:n.3041-14T>C
ENST00000675724.1:c.3046T>C	ENSP00000502576.1:n.3046T>C
ENST00000675771.1:c.2371T>C	ENSP00000502104.1:n.2371T>C
ENST00000675797.1:c.2513T>C	ENSP00000502023.1:n.2513T>C
ENST00000675809.1:c.3163T>C	ENSP00000502587.1:n.3163T>C
ENST00000675930.1:c.3108T>C	ENSP00000502456.1:p.Leu1036=
ENST00000675980.1:c.3126T>C	ENSP00000502520.1:p.Leu1042=
ENST00000676016.1:c.3007T>C	ENSP00000502412.1:n.3007T>C
ENST00000676366.1:c.3108T>C	ENSP00000501605.1:p.Leu1036=
ENST00000252527.8:c.1512T>C	ENSP00000252527.8:p.Leu504=
ENST00000330634.11:c.3108T>C	ENSP00000376406.3:p.Leu1036=
ENST00000392634.8:c.3108T>C	ENSP00000376410.4:p.Leu1036=
ENST00000617571.4:c.-1026T>C	ENSP00000483829.1:n.-1026T>C
NM_001031714.3:c.3108T>C	NP_001026884.3:p.Leu1036=
NM_022489.3:c.3108T>C	NP_071934.3:p.Leu1036=
XM_005268004.3:c.3204T>C	XP_005268061.1:p.Leu1068=
XM_005268005.3:c.3204T>C	XP_005268062.1:p.Leu1068=
XR_943507.1:n.3333T>C
XM_005268004.4:c.3204T>C	XP_005268061.1:p.Leu1068=
XM_005268005.4:c.3204T>C	XP_005268062.1:p.Leu1068=
XM_017021595.1:c.3204T>C	XP_016877084.1:p.Leu1068=
NM_001031714.4:c.3108T>C	NP_001026884.3:p.Leu1036=
NM_022489.4:c.3108T>C MANE Select	NP_071934.3:p.Leu1036=