Canonical Allele Identifier: CA10643853

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714352T>C , CM000676.2:g.104714352T>C	GRCh38
NC_000014.8:g.105180689T>C , CM000676.1:g.105180689T>C	GRCh37
NC_000014.7:g.104251734T>C	NCBI36
NG_027684.1:g.29747T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3190T>C MANE Select	NP_071934.3:p.Leu1064=
ENST00000392634.9:c.3190T>C MANE Select	ENSP00000376410.4:p.Leu1064=
NM_001031714.3:c.3190T>C	NP_001026884.3:p.Leu1064=
NM_001031714.4:c.3190T>C	NP_001026884.3:p.Leu1064=
NM_022489.3:c.3190T>C	NP_071934.3:p.Leu1064=
ENST00000252527.8:c.1594T>C	ENSP00000252527.8:p.Leu532=
ENST00000330634.11:c.3190T>C	ENSP00000376406.3:p.Leu1064=
ENST00000392634.8:c.3190T>C	ENSP00000376410.4:p.Leu1064=
ENST00000617571.4:c.-944T>C	ENSP00000483829.1:n.-944T>C
ENST00000617571.5:c.3186T>C	ENSP00000483829.2:n.3186T>C
ENST00000674520.1:c.3185T>C	ENSP00000502593.1:n.3185T>C
ENST00000674631.1:c.1228T>C	ENSP00000502830.1:p.Leu410=
ENST00000674662.1:c.3194T>C	ENSP00000501895.1:n.3194T>C
ENST00000674757.1:c.3195T>C	ENSP00000502202.1:n.3195T>C
ENST00000674822.1:c.3074T>C	ENSP00000501552.1:n.3074T>C
ENST00000674846.1:c.3185T>C	ENSP00000502431.1:n.3185T>C
ENST00000674857.1:c.3179T>C	ENSP00000501687.1:n.3179T>C
ENST00000674960.1:c.3048T>C	ENSP00000501841.1:n.3048T>C
ENST00000674991.1:c.2440T>C	ENSP00000502004.1:p.Leu814=
ENST00000675207.1:c.3286T>C	ENSP00000502644.1:p.Leu1096=
ENST00000675329.1:c.3166T>C	ENSP00000502287.1:p.Leu1056=
ENST00000675481.1:c.3190T>C	ENSP00000502723.1:p.Leu1064=
ENST00000675583.1:c.3119T>C	ENSP00000501740.1:n.3119T>C
ENST00000675603.1:n.430T>C
ENST00000675638.1:c.3109T>C	ENSP00000501647.1:p.Leu1037=
ENST00000675724.1:c.3128T>C	ENSP00000502576.1:n.3128T>C
ENST00000675771.1:c.2453T>C	ENSP00000502104.1:n.2453T>C
ENST00000675797.1:c.2595T>C	ENSP00000502023.1:n.2595T>C
ENST00000675809.1:c.3245T>C	ENSP00000502587.1:n.3245T>C
ENST00000675930.1:c.3190T>C	ENSP00000502456.1:p.Leu1064=
ENST00000675980.1:c.3208T>C	ENSP00000502520.1:p.Leu1070=
ENST00000676016.1:c.3089T>C	ENSP00000502412.1:n.3089T>C
ENST00000676366.1:c.3190T>C	ENSP00000501605.1:p.Leu1064=
XM_005268004.3:c.3286T>C	XP_005268061.1:p.Leu1096=
XM_005268004.4:c.3286T>C	XP_005268061.1:p.Leu1096=
XM_005268005.3:c.3286T>C	XP_005268062.1:p.Leu1096=
XM_005268005.4:c.3286T>C	XP_005268062.1:p.Leu1096=
XM_017021595.1:c.3286T>C	XP_016877084.1:p.Leu1096=
XR_943507.1:n.3415T>C