Canonical Allele Identifier: CA13985931

Gene: INF2

Linked Data

• ClinVar Variation Id: 380922
• ClinVar RCV Id: RCV001703622
• dbSNP Id: rs77549829
• gnomAD v2: 14-105156092-C-A
• gnomAD v3: 14-104689755-C-A
• gnomAD v4: 14-104689755-C-A
• MyVariant Identifiers: chr14:g.105156092C>A (hg19) ; chr14:g.104689755C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104689755C>A , CM000676.2:g.104689755C>A	GRCh38
NC_000014.8:g.105156092C>A , CM000676.1:g.105156092C>A	GRCh37
NC_000014.7:g.104227137C>A	NCBI36
NG_027684.1:g.5150C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.-10+16C>A MANE Select	ENSP00000376410.4:n.-10+16C>A
ENST00000674723.1:c.-10+510C>A	ENSP00000502257.1:n.-10+510C>A
ENST00000674869.1:c.-10+8173C>A	ENSP00000501558.1:n.-10+8173C>A
ENST00000675482.1:c.-511+16C>A	ENSP00000501798.1:n.-511+16C>A
ENST00000676427.1:c.-10+16C>A	ENSP00000502106.1:n.-10+16C>A
ENST00000330634.11:c.-10+16C>A	ENSP00000376406.3:n.-10+16C>A
ENST00000392634.8:c.-10+16C>A	ENSP00000376410.4:n.-10+16C>A
ENST00000398337.8:c.-10+16C>A	ENSP00000381380.4:n.-10+16C>A
NM_001031714.3:c.-10+16C>A	NP_001026884.3:n.-10+16C>A
NM_022489.3:c.-10+16C>A	NP_071934.3:n.-10+16C>A
NM_032714.2:c.-10+16C>A	NP_116103.1:n.-10+16C>A
NM_001031714.4:c.-10+16C>A	NP_001026884.3:n.-10+16C>A
NM_022489.4:c.-10+16C>A MANE Select	NP_071934.3:n.-10+16C>A
NM_032714.3:c.-10+16C>A	NP_116103.1:n.-10+16C>A