Canonical Allele Identifier: CA10639830

Gene: INF2

Linked Data

• ClinVar Variation Id: 312684
• ClinVar RCV Id: RCV000393663 ; RCV002446566 ; RCV002480127
• dbSNP Id: rs376942822
• gnomAD v4: 14-104707393-A-T
• MyVariant Identifiers: chr14:g.105173730A>T (hg19) ; chr14:g.104707393A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104707393A>T , CM000676.2:g.104707393A>T	GRCh38
NC_000014.8:g.105173730A>T , CM000676.1:g.105173730A>T	GRCh37
NC_000014.7:g.104244775A>T	NCBI36
NG_027684.1:g.22788A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.1126A>T MANE Select	ENSP00000376410.4:p.Thr376Ser
ENST00000617571.5:c.1126A>T	ENSP00000483829.2:p.Thr376Ser
ENST00000674520.1:c.1126A>T	ENSP00000502593.1:p.Thr376Ser
ENST00000674602.1:c.141A>T
ENST00000674662.1:c.1126A>T	ENSP00000501895.1:p.Thr376Ser
ENST00000674757.1:c.1126A>T	ENSP00000502202.1:p.Thr376Ser
ENST00000674822.1:c.1010A>T	ENSP00000501552.1:n.1010A>T
ENST00000674846.1:c.1126A>T	ENSP00000502431.1:p.Thr376Ser
ENST00000674857.1:c.1115A>T	ENSP00000501687.1:n.1115A>T
ENST00000674960.1:c.984A>T	ENSP00000501841.1:n.984A>T
ENST00000674991.1:c.985+342A>T	ENSP00000502004.1:n.985+342A>T
ENST00000674994.1:c.1092A>T	ENSP00000502442.1:n.1092A>T
ENST00000675207.1:c.1222A>T	ENSP00000502644.1:p.Thr408Ser
ENST00000675329.1:c.1102A>T	ENSP00000502287.1:p.Thr368Ser
ENST00000675481.1:c.1126A>T	ENSP00000502723.1:p.Thr376Ser
ENST00000675583.1:c.1126A>T	ENSP00000501740.1:p.Thr376Ser
ENST00000675638.1:c.1126A>T	ENSP00000501647.1:p.Thr376Ser
ENST00000675724.1:c.1126A>T	ENSP00000502576.1:p.Thr376Ser
ENST00000675771.1:c.844-455A>T	ENSP00000502104.1:n.844-455A>T
ENST00000675797.1:c.985+342A>T	ENSP00000502023.1:n.985+342A>T
ENST00000675809.1:c.1126A>T	ENSP00000502587.1:p.Thr376Ser
ENST00000675930.1:c.1126A>T	ENSP00000502456.1:p.Thr376Ser
ENST00000675980.1:c.1126A>T	ENSP00000502520.1:p.Thr376Ser
ENST00000676016.1:c.1126A>T	ENSP00000502412.1:p.Thr376Ser
ENST00000676366.1:c.1126A>T	ENSP00000501605.1:p.Thr376Ser
ENST00000330634.11:c.1126A>T	ENSP00000376406.3:p.Thr376Ser
ENST00000392634.8:c.1126A>T	ENSP00000376410.4:p.Thr376Ser
NM_001031714.3:c.1126A>T	NP_001026884.3:p.Thr376Ser
NM_022489.3:c.1126A>T	NP_071934.3:p.Thr376Ser
XM_005268004.3:c.1222A>T	XP_005268061.1:p.Thr408Ser
XM_005268005.3:c.1222A>T	XP_005268062.1:p.Thr408Ser
XR_943507.1:n.1351A>T
XM_005268004.4:c.1222A>T	XP_005268061.1:p.Thr408Ser
XM_005268005.4:c.1222A>T	XP_005268062.1:p.Thr408Ser
XM_017021595.1:c.1222A>T	XP_016877084.1:p.Thr408Ser
XR_001750518.1:n.1327A>T
NM_001031714.4:c.1126A>T	NP_001026884.3:p.Thr376Ser
NM_022489.4:c.1126A>T MANE Select	NP_071934.3:p.Thr376Ser