Canonical Allele Identifier: CA391215914

Gene: INF2

Linked Data

• gnomAD v4: 14-104707394-C-G
• MyVariant Identifiers: chr14:g.105173731C>G (hg19) ; chr14:g.104707394C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104707394C>G , CM000676.2:g.104707394C>G	GRCh38
NC_000014.8:g.105173731C>G , CM000676.1:g.105173731C>G	GRCh37
NC_000014.7:g.104244776C>G	NCBI36
NG_027684.1:g.22789C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.1127C>G MANE Select	ENSP00000376410.4:p.Thr376Ser
ENST00000617571.5:c.1127C>G	ENSP00000483829.2:p.Thr376Ser
ENST00000674520.1:c.1127C>G	ENSP00000502593.1:p.Thr376Ser
ENST00000674602.1:c.142C>G
ENST00000674662.1:c.1127C>G	ENSP00000501895.1:p.Thr376Ser
ENST00000674757.1:c.1127C>G	ENSP00000502202.1:p.Thr376Ser
ENST00000674822.1:c.1011C>G	ENSP00000501552.1:n.1011C>G
ENST00000674846.1:c.1127C>G	ENSP00000502431.1:p.Thr376Ser
ENST00000674857.1:c.1116C>G	ENSP00000501687.1:n.1116C>G
ENST00000674960.1:c.985C>G	ENSP00000501841.1:n.985C>G
ENST00000674991.1:c.985+343C>G	ENSP00000502004.1:n.985+343C>G
ENST00000674994.1:c.1093C>G	ENSP00000502442.1:n.1093C>G
ENST00000675207.1:c.1223C>G	ENSP00000502644.1:p.Thr408Ser
ENST00000675329.1:c.1103C>G	ENSP00000502287.1:p.Thr368Ser
ENST00000675481.1:c.1127C>G	ENSP00000502723.1:p.Thr376Ser
ENST00000675583.1:c.1127C>G	ENSP00000501740.1:p.Thr376Ser
ENST00000675638.1:c.1127C>G	ENSP00000501647.1:p.Thr376Ser
ENST00000675724.1:c.1127C>G	ENSP00000502576.1:p.Thr376Ser
ENST00000675771.1:c.844-454C>G	ENSP00000502104.1:n.844-454C>G
ENST00000675797.1:c.985+343C>G	ENSP00000502023.1:n.985+343C>G
ENST00000675809.1:c.1127C>G	ENSP00000502587.1:p.Thr376Ser
ENST00000675930.1:c.1127C>G	ENSP00000502456.1:p.Thr376Ser
ENST00000675980.1:c.1127C>G	ENSP00000502520.1:p.Thr376Ser
ENST00000676016.1:c.1127C>G	ENSP00000502412.1:p.Thr376Ser
ENST00000676366.1:c.1127C>G	ENSP00000501605.1:p.Thr376Ser
ENST00000330634.11:c.1127C>G	ENSP00000376406.3:p.Thr376Ser
ENST00000392634.8:c.1127C>G	ENSP00000376410.4:p.Thr376Ser
NM_001031714.3:c.1127C>G	NP_001026884.3:p.Thr376Ser
NM_022489.3:c.1127C>G	NP_071934.3:p.Thr376Ser
XM_005268004.3:c.1223C>G	XP_005268061.1:p.Thr408Ser
XM_005268005.3:c.1223C>G	XP_005268062.1:p.Thr408Ser
XR_943507.1:n.1352C>G
XM_005268004.4:c.1223C>G	XP_005268061.1:p.Thr408Ser
XM_005268005.4:c.1223C>G	XP_005268062.1:p.Thr408Ser
XM_017021595.1:c.1223C>G	XP_016877084.1:p.Thr408Ser
XR_001750518.1:n.1328C>G
NM_001031714.4:c.1127C>G	NP_001026884.3:p.Thr376Ser
NM_022489.4:c.1127C>G MANE Select	NP_071934.3:p.Thr376Ser