Canonical Allele Identifier: CA7373383

Gene: INF2

Linked Data

• ClinVar Variation Id: 426785
• ClinVar RCV Id: RCV000786965 ; RCV001722412 ; RCV001295214
• dbSNP Id: rs758452999
• ExAC: 14:105181678 G / C
• gnomAD v2: 14-105181678-G-C
• gnomAD v3: 14-104715341-G-C
• gnomAD v4: 14-104715341-G-C
• MyVariant Identifiers: chr14:g.105181678G>C (hg19) ; chr14:g.104715341G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104715341G>C , CM000676.2:g.104715341G>C	GRCh38
NC_000014.8:g.105181678G>C , CM000676.1:g.105181678G>C	GRCh37
NC_000014.7:g.104252723G>C	NCBI36
NG_027684.1:g.30736G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.*1+1G>C MANE Select	ENSP00000376410.4:n.*1+1G>C
ENST00000617571.5:c.3747+1G>C	ENSP00000483829.2:n.3747+1G>C
ENST00000674686.1:c.57+1G>C
ENST00000675207.1:c.*1+1G>C	ENSP00000502644.1:n.*1+1G>C
ENST00000675424.1:c.57+1G>C
ENST00000675638.1:c.3670+1G>C	ENSP00000501647.1:n.3670+1G>C
ENST00000252527.8:c.2155+1G>C	ENSP00000252527.8:n.2155+1G>C
ENST00000330634.11:c.3694+485G>C	ENSP00000376406.3:n.3694+485G>C
ENST00000392634.8:c.*1+1G>C	ENSP00000376410.4:n.*1+1G>C
ENST00000617571.4:c.-383+1G>C	ENSP00000483829.1:n.-383+1G>C
NM_001031714.3:c.3694+485G>C	NP_001026884.3:n.3694+485G>C
NM_022489.3:c.*1+1G>C	NP_071934.3:n.*1+1G>C
XM_005268004.3:c.*1+1G>C	XP_005268061.1:n.*1+1G>C
XM_005268005.3:c.3790+485G>C	XP_005268062.1:n.3790+485G>C
XR_943507.1:n.3976+1G>C
XM_005268004.4:c.*1+1G>C	XP_005268061.1:n.*1+1G>C
XM_005268005.4:c.3790+485G>C	XP_005268062.1:n.3790+485G>C
XM_017021595.1:c.*1+1G>C	XP_016877084.1:n.*1+1G>C
NM_001031714.4:c.3694+485G>C	NP_001026884.3:n.3694+485G>C
NM_022489.4:c.*1+1G>C MANE Select	NP_071934.3:n.*1+1G>C