Canonical Allele Identifier: CA7373216

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714419T>C , CM000676.2:g.104714419T>C	GRCh38
NC_000014.8:g.105180756T>C , CM000676.1:g.105180756T>C	GRCh37
NC_000014.7:g.104251801T>C	NCBI36
NG_027684.1:g.29814T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3257T>C MANE Select	NP_071934.3:p.Leu1086Pro
ENST00000392634.9:c.3257T>C MANE Select	ENSP00000376410.4:p.Leu1086Pro
NM_001031714.3:c.3257T>C	NP_001026884.3:p.Leu1086Pro
NM_001031714.4:c.3257T>C	NP_001026884.3:p.Leu1086Pro
NM_022489.3:c.3257T>C	NP_071934.3:p.Leu1086Pro
ENST00000252527.8:c.1661T>C	ENSP00000252527.8:p.Leu554Pro
ENST00000330634.11:c.3257T>C	ENSP00000376406.3:p.Leu1086Pro
ENST00000392634.8:c.3257T>C	ENSP00000376410.4:p.Leu1086Pro
ENST00000617571.4:c.-877T>C	ENSP00000483829.1:n.-877T>C
ENST00000617571.5:c.3253T>C	ENSP00000483829.2:n.3253T>C
ENST00000674520.1:c.3252T>C	ENSP00000502593.1:n.3252T>C
ENST00000674631.1:c.1295T>C	ENSP00000502830.1:p.Leu432Pro
ENST00000674662.1:c.3261T>C	ENSP00000501895.1:n.3261T>C
ENST00000674757.1:c.3262T>C	ENSP00000502202.1:n.3262T>C
ENST00000674822.1:c.3141T>C	ENSP00000501552.1:n.3141T>C
ENST00000674846.1:c.3252T>C	ENSP00000502431.1:n.3252T>C
ENST00000674857.1:c.3246T>C	ENSP00000501687.1:n.3246T>C
ENST00000674960.1:c.3115T>C	ENSP00000501841.1:n.3115T>C
ENST00000674991.1:c.2507T>C	ENSP00000502004.1:p.Leu836Pro
ENST00000675207.1:c.3353T>C	ENSP00000502644.1:p.Leu1118Pro
ENST00000675329.1:c.3233T>C	ENSP00000502287.1:p.Leu1078Pro
ENST00000675481.1:c.3257T>C	ENSP00000502723.1:p.Leu1086Pro
ENST00000675583.1:c.3186T>C	ENSP00000501740.1:n.3186T>C
ENST00000675603.1:n.497T>C
ENST00000675638.1:c.3176T>C	ENSP00000501647.1:p.Leu1059Pro
ENST00000675724.1:c.3195T>C	ENSP00000502576.1:n.3195T>C
ENST00000675771.1:c.2520T>C	ENSP00000502104.1:n.2520T>C
ENST00000675797.1:c.2662T>C	ENSP00000502023.1:n.2662T>C
ENST00000675809.1:c.3312T>C	ENSP00000502587.1:n.3312T>C
ENST00000675930.1:c.3233+24T>C	ENSP00000502456.1:n.3233+24T>C
ENST00000675980.1:c.3275T>C	ENSP00000502520.1:p.Leu1092Pro
ENST00000676016.1:c.3156T>C	ENSP00000502412.1:n.3156T>C
ENST00000676366.1:c.3233+24T>C	ENSP00000501605.1:n.3233+24T>C
XM_005268004.3:c.3353T>C	XP_005268061.1:p.Leu1118Pro
XM_005268004.4:c.3353T>C	XP_005268061.1:p.Leu1118Pro
XM_005268005.3:c.3353T>C	XP_005268062.1:p.Leu1118Pro
XM_005268005.4:c.3353T>C	XP_005268062.1:p.Leu1118Pro
XM_017021595.1:c.3353T>C	XP_016877084.1:p.Leu1118Pro
XR_943507.1:n.3482T>C