Canonical Allele Identifier: CA391213240

Gene: INF2

Linked Data

• dbSNP Id: rs1312537060
• gnomAD v2: 14-105169671-A-C
• gnomAD v4: 14-104703334-A-C
• MyVariant Identifiers: chr14:g.105169671A>C (hg19) ; chr14:g.104703334A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104703334A>C , CM000676.2:g.104703334A>C	GRCh38
NC_000014.8:g.105169671A>C , CM000676.1:g.105169671A>C	GRCh37
NC_000014.7:g.104240716A>C	NCBI36
NG_027684.1:g.18729A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000392634.9:c.547A>C MANE Select	ENSP00000376410.4:p.Asn183His
ENST00000617571.5:c.547A>C	ENSP00000483829.2:p.Asn183His
ENST00000674520.1:c.547A>C	ENSP00000502593.1:p.Asn183His
ENST00000674662.1:c.547A>C	ENSP00000501895.1:p.Asn183His
ENST00000674757.1:c.547A>C	ENSP00000502202.1:p.Asn183His
ENST00000674822.1:c.431A>C	ENSP00000501552.1:p.Glu144Ala
ENST00000674846.1:c.547A>C	ENSP00000502431.1:p.Asn183His
ENST00000674857.1:c.536A>C	ENSP00000501687.1:p.Glu179Ala
ENST00000674960.1:c.547A>C	ENSP00000501841.1:p.Asn183His
ENST00000674991.1:c.547A>C	ENSP00000502004.1:p.Asn183His
ENST00000674994.1:c.547A>C	ENSP00000502442.1:p.Asn183His
ENST00000675029.1:n.749A>C
ENST00000675207.1:c.643A>C	ENSP00000502644.1:p.Asn215His
ENST00000675329.1:c.547A>C	ENSP00000502287.1:p.Asn183His
ENST00000675481.1:c.547A>C	ENSP00000502723.1:p.Asn183His
ENST00000675583.1:c.547A>C	ENSP00000501740.1:p.Asn183His
ENST00000675638.1:c.547A>C	ENSP00000501647.1:p.Asn183His
ENST00000675724.1:c.547A>C	ENSP00000502576.1:p.Asn183His
ENST00000675771.1:c.547A>C	ENSP00000502104.1:p.Asn183His
ENST00000675797.1:c.547A>C	ENSP00000502023.1:p.Asn183His
ENST00000675809.1:c.547A>C	ENSP00000502587.1:p.Asn183His
ENST00000675930.1:c.547A>C	ENSP00000502456.1:p.Asn183His
ENST00000675980.1:c.547A>C	ENSP00000502520.1:p.Asn183His
ENST00000676016.1:c.547A>C	ENSP00000502412.1:p.Asn183His
ENST00000676366.1:c.547A>C	ENSP00000501605.1:p.Asn183His
ENST00000330634.11:c.547A>C	ENSP00000376406.3:p.Asn183His
ENST00000392634.8:c.547A>C	ENSP00000376410.4:p.Asn183His
ENST00000398337.8:c.547A>C	ENSP00000381380.4:p.Asn183His
NM_001031714.3:c.547A>C	NP_001026884.3:p.Asn183His
NM_022489.3:c.547A>C	NP_071934.3:p.Asn183His
NM_032714.2:c.547A>C	NP_116103.1:p.Asn183His
XM_005268004.3:c.643A>C	XP_005268061.1:p.Asn215His
XM_005268005.3:c.643A>C	XP_005268062.1:p.Asn215His
XR_943507.1:n.772A>C
XM_005268004.4:c.643A>C	XP_005268061.1:p.Asn215His
XM_005268005.4:c.643A>C	XP_005268062.1:p.Asn215His
XM_017021595.1:c.643A>C	XP_016877084.1:p.Asn215His
XR_001750518.1:n.748A>C
NM_001031714.4:c.547A>C	NP_001026884.3:p.Asn183His
NM_022489.4:c.547A>C MANE Select	NP_071934.3:p.Asn183His
NM_032714.3:c.547A>C	NP_116103.1:p.Asn183His