Canonical Allele Identifier: CA10634665

Gene: INF2

Linked Data

• ClinVar Variation Id: 312720
• ClinVar RCV Id: RCV000379627
• dbSNP Id: rs1128866
• gnomAD v2: 14-105185567-G-A
• gnomAD v3: 14-104719230-G-A
• gnomAD v4: 14-104719230-G-A
• MyVariant Identifiers: chr14:g.105185567G>A (hg19) ; chr14:g.104719230G>A (hg38)

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