Canonical Allele Identifier: CA10639828

Gene: INF2

Linked Data

• ClinVar Variation Id: 312675
• ClinVar RCV Id: RCV000319953 ; RCV001197342 ; RCV000432759
• dbSNP Id: rs115602636
• gnomAD v2: 14-105156076-G-A
• gnomAD v3: 14-104689739-G-A
• gnomAD v4: 14-104689739-G-A
• MyVariant Identifiers: chr14:g.105156076G>A (hg19) ; chr14:g.104689739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104689739G>A , CM000676.2:g.104689739G>A	GRCh38
NC_000014.8:g.105156076G>A , CM000676.1:g.105156076G>A	GRCh37
NC_000014.7:g.104227121G>A	NCBI36
NG_027684.1:g.5134G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.-10G>A MANE Select	ENSP00000376410.4:n.-10G>A
ENST00000674723.1:c.-10+494G>A	ENSP00000502257.1:n.-10+494G>A
ENST00000674869.1:c.-10+8157G>A	ENSP00000501558.1:n.-10+8157G>A
ENST00000675248.1:n.577G>A
ENST00000675482.1:c.-511G>A	ENSP00000501798.1:n.-511G>A
ENST00000675743.1:n.648G>A
ENST00000676427.1:c.-10G>A	ENSP00000502106.1:n.-10G>A
ENST00000330634.11:c.-10G>A	ENSP00000376406.3:n.-10G>A
ENST00000392634.8:c.-10G>A	ENSP00000376410.4:n.-10G>A
ENST00000398337.8:c.-10G>A	ENSP00000381380.4:n.-10G>A
NM_001031714.3:c.-10G>A	NP_001026884.3:n.-10G>A
NM_022489.3:c.-10G>A	NP_071934.3:n.-10G>A
NM_032714.2:c.-10G>A	NP_116103.1:n.-10G>A
NM_001031714.4:c.-10G>A	NP_001026884.3:n.-10G>A
NM_022489.4:c.-10G>A MANE Select	NP_071934.3:n.-10G>A
NM_032714.3:c.-10G>A	NP_116103.1:n.-10G>A