Canonical Allele Identifier: CA10634665
Gene: INF2 HGNC NCBI
gnomAD v2:
14:105185567 G / A
gnomAD v3:
14:104719230 G / A
gnomAD v4:
chr14-104719230-G-A
Joint Max Group AF 0.20755797 (NFE)
Genomes Max Group AF 0.21205365 (NFE)
Exomes Max Group AF 0.17971683 (NFE)
ClinVar Allele:
320246
ClinVar RCV:
RCV000379627
ClinVar Variation:
312720
dbSNP:
1128866
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104719230G>A , CM000676.2:g.104719230G>A GRCh38
NC_000014.8:g.105185567G>A , CM000676.1:g.105185567G>A GRCh37
NC_000014.7:g.104256612G>A NCBI36
NG_027684.1:g.34625G>A
NG_051175.1:g.34G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392634.9:c.*437G>A MANE Select ENSP00000376410.4:n.*437G>A
ENST00000617571.5:c.4183G>A ENSP00000483829.2:n.4183G>A
ENST00000674686.1:c.592G>A
ENST00000675207.1:c.*437G>A ENSP00000502644.1:n.*437G>A
ENST00000675424.1:c.678G>A
ENST00000675638.1:c.4106G>A ENSP00000501647.1:n.4106G>A
ENST00000252527.8:c.2675G>A ENSP00000252527.8:n.2675G>A
ENST00000330634.11:c.*407G>A ENSP00000376406.3:n.*407G>A
ENST00000392634.8:c.*437G>A ENSP00000376410.4:n.*437G>A
ENST00000481338.1:n.729G>A
ENST00000617571.4:c.54G>A ENSP00000483829.1:p.Leu18=
NM_001031714.3:c.*407G>A NP_001026884.3:n.*407G>A
NM_022489.3:c.*437G>A NP_071934.3:n.*437G>A
XM_005268004.3:c.*437G>A XP_005268061.1:n.*437G>A
XM_005268005.3:c.*407G>A XP_005268062.1:n.*407G>A
XM_005268004.4:c.*437G>A XP_005268061.1:n.*437G>A
XM_005268005.4:c.*407G>A XP_005268062.1:n.*407G>A
NM_001031714.4:c.*407G>A NP_001026884.3:n.*407G>A
NM_022489.4:c.*437G>A MANE Select NP_071934.3:n.*437G>A
Search 100 bp 5'
Search 100 bp 3'