Canonical Allele Identifier: CA391216445

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104707546C>A , CM000676.2:g.104707546C>A	GRCh38
NC_000014.8:g.105173883C>A , CM000676.1:g.105173883C>A	GRCh37
NC_000014.7:g.104244928C>A	NCBI36
NG_027684.1:g.22941C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.1279C>A MANE Select	NP_071934.3:p.Pro427Thr
ENST00000392634.9:c.1279C>A MANE Select	ENSP00000376410.4:p.Pro427Thr
NM_001031714.3:c.1279C>A	NP_001026884.3:p.Pro427Thr
NM_001031714.4:c.1279C>A	NP_001026884.3:p.Pro427Thr
NM_022489.3:c.1279C>A	NP_071934.3:p.Pro427Thr
ENST00000330634.11:c.1279C>A	ENSP00000376406.3:p.Pro427Thr
ENST00000392634.8:c.1279C>A	ENSP00000376410.4:p.Pro427Thr
ENST00000617571.5:c.1279C>A	ENSP00000483829.2:p.Pro427Thr
ENST00000674520.1:c.1279C>A	ENSP00000502593.1:p.Pro427Thr
ENST00000674602.1:c.294C>A
ENST00000674662.1:c.1279C>A	ENSP00000501895.1:p.Pro427Thr
ENST00000674757.1:c.1279C>A	ENSP00000502202.1:p.Pro427Thr
ENST00000674822.1:c.1163C>A	ENSP00000501552.1:n.1163C>A
ENST00000674846.1:c.1279C>A	ENSP00000502431.1:p.Pro427Thr
ENST00000674857.1:c.1268C>A	ENSP00000501687.1:n.1268C>A
ENST00000674960.1:c.1137C>A	ENSP00000501841.1:n.1137C>A
ENST00000674991.1:c.985+495C>A	ENSP00000502004.1:n.985+495C>A
ENST00000674994.1:c.1245C>A	ENSP00000502442.1:n.1245C>A
ENST00000675207.1:c.1375C>A	ENSP00000502644.1:p.Pro459Thr
ENST00000675329.1:c.1255C>A	ENSP00000502287.1:p.Pro419Thr
ENST00000675481.1:c.1279C>A	ENSP00000502723.1:p.Pro427Thr
ENST00000675583.1:c.1279C>A	ENSP00000501740.1:p.Pro427Thr
ENST00000675638.1:c.1279C>A	ENSP00000501647.1:p.Pro427Thr
ENST00000675724.1:c.1279C>A	ENSP00000502576.1:p.Pro427Thr
ENST00000675771.1:c.844-302C>A	ENSP00000502104.1:n.844-302C>A
ENST00000675797.1:c.986-302C>A	ENSP00000502023.1:n.986-302C>A
ENST00000675809.1:c.1279C>A	ENSP00000502587.1:p.Pro427Thr
ENST00000675930.1:c.1279C>A	ENSP00000502456.1:p.Pro427Thr
ENST00000675980.1:c.1279C>A	ENSP00000502520.1:p.Pro427Thr
ENST00000676016.1:c.1279C>A	ENSP00000502412.1:p.Pro427Thr
ENST00000676366.1:c.1279C>A	ENSP00000501605.1:p.Pro427Thr
XM_005268004.3:c.1375C>A	XP_005268061.1:p.Pro459Thr
XM_005268004.4:c.1375C>A	XP_005268061.1:p.Pro459Thr
XM_005268005.3:c.1375C>A	XP_005268062.1:p.Pro459Thr
XM_005268005.4:c.1375C>A	XP_005268062.1:p.Pro459Thr
XM_017021595.1:c.1375C>A	XP_016877084.1:p.Pro459Thr
XR_001750518.1:n.1480C>A
XR_943507.1:n.1504C>A