Canonical Allele Identifier: CA10634630

Gene: INF2

Linked Data

• ClinVar Variation Id: 312674
• ClinVar RCV Id: RCV000274264
• dbSNP Id: rs886050379
• gnomAD v4: 14-104689699-G-A
• MyVariant Identifiers: chr14:g.105156036G>A (hg19) ; chr14:g.104689699G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104689699G>A , CM000676.2:g.104689699G>A	GRCh38
NC_000014.8:g.105156036G>A , CM000676.1:g.105156036G>A	GRCh37
NC_000014.7:g.104227081G>A	NCBI36
NG_027684.1:g.5094G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.-50G>A MANE Select	ENSP00000376410.4:n.-50G>A
ENST00000674723.1:c.-10+454G>A	ENSP00000502257.1:n.-10+454G>A
ENST00000674869.1:c.-10+8117G>A	ENSP00000501558.1:n.-10+8117G>A
ENST00000675248.1:n.537G>A
ENST00000675482.1:c.-551G>A	ENSP00000501798.1:n.-551G>A
ENST00000675743.1:n.608G>A
ENST00000676427.1:c.-50G>A	ENSP00000502106.1:n.-50G>A
ENST00000330634.11:c.-50G>A	ENSP00000376406.3:n.-50G>A
ENST00000392634.8:c.-50G>A	ENSP00000376410.4:n.-50G>A
ENST00000398337.8:c.-50G>A	ENSP00000381380.4:n.-50G>A
NM_001031714.3:c.-50G>A	NP_001026884.3:n.-50G>A
NM_022489.3:c.-50G>A	NP_071934.3:n.-50G>A
NM_032714.2:c.-50G>A	NP_116103.1:n.-50G>A
NM_001031714.4:c.-50G>A	NP_001026884.3:n.-50G>A
NM_022489.4:c.-50G>A MANE Select	NP_071934.3:n.-50G>A
NM_032714.3:c.-50G>A	NP_116103.1:n.-50G>A