Canonical Allele Identifier: CA267330289

Gene: INF2

Linked Data

• dbSNP Id: rs989343543
• gnomAD v4: 14-104701342-G-T
• MyVariant Identifiers: chr14:g.105167679G>T (hg19) ; chr14:g.104701342G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104701342G>T , CM000676.2:g.104701342G>T	GRCh38
NC_000014.8:g.105167679G>T , CM000676.1:g.105167679G>T	GRCh37
NC_000014.7:g.104238724G>T	NCBI36
NG_027684.1:g.16737G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.-9-15G>T MANE Select	ENSP00000376410.4:n.-9-15G>T
ENST00000674723.1:c.-9-15G>T	ENSP00000502257.1:n.-9-15G>T
ENST00000674869.1:c.-9-15G>T	ENSP00000501558.1:n.-9-15G>T
ENST00000674966.1:n.460-15G>T
ENST00000675207.1:c.88-15G>T	ENSP00000502644.1:n.88-15G>T
ENST00000675313.1:n.33-15G>T
ENST00000675482.1:c.-9-15G>T	ENSP00000501798.1:n.-9-15G>T
ENST00000675616.1:n.32-15G>T
ENST00000676100.1:n.129-15G>T
ENST00000676427.1:c.-9-15G>T	ENSP00000502106.1:n.-9-15G>T
ENST00000330634.11:c.-9-15G>T	ENSP00000376406.3:n.-9-15G>T
ENST00000392634.8:c.-9-15G>T	ENSP00000376410.4:n.-9-15G>T
ENST00000398337.8:c.-9-15G>T	ENSP00000381380.4:n.-9-15G>T
NM_001031714.3:c.-9-15G>T	NP_001026884.3:n.-9-15G>T
NM_022489.3:c.-9-15G>T	NP_071934.3:n.-9-15G>T
NM_032714.2:c.-9-15G>T	NP_116103.1:n.-9-15G>T
XM_005268004.3:c.88-15G>T	XP_005268061.1:n.88-15G>T
XM_005268005.3:c.88-15G>T	XP_005268062.1:n.88-15G>T
XR_943507.1:n.217-15G>T
XM_005268004.4:c.88-15G>T	XP_005268061.1:n.88-15G>T
XM_005268005.4:c.88-15G>T	XP_005268062.1:n.88-15G>T
XM_017021595.1:c.88-15G>T	XP_016877084.1:n.88-15G>T
XR_001750518.1:n.193-15G>T
NM_001031714.4:c.-9-15G>T	NP_001026884.3:n.-9-15G>T
NM_022489.4:c.-9-15G>T MANE Select	NP_071934.3:n.-9-15G>T
NM_032714.3:c.-9-15G>T	NP_116103.1:n.-9-15G>T