Canonical Allele Identifier: CA7372608

Gene: INF2

Linked Data

• ClinVar Variation Id: 506345
• ClinVar RCV Id: RCV000604636 ; RCV001438965 ; RCV002404618
• dbSNP Id: rs201561899
• ExAC: 14:105174218 C / T
• gnomAD v2: 14-105174218-C-T
• gnomAD v3: 14-104707881-C-T
• gnomAD v4: 14-104707881-C-T
• MyVariant Identifiers: chr14:g.105174218C>T (hg19) ; chr14:g.104707881C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104707881C>T , CM000676.2:g.104707881C>T	GRCh38
NC_000014.8:g.105174218C>T , CM000676.1:g.105174218C>T	GRCh37
NC_000014.7:g.104245263C>T	NCBI36
NG_027684.1:g.23276C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.1614C>T MANE Select	ENSP00000376410.4:p.Ile538=
ENST00000617571.5:c.1614C>T	ENSP00000483829.2:p.Ile538=
ENST00000674520.1:c.1614C>T	ENSP00000502593.1:p.Ile538=
ENST00000674602.1:c.629C>T
ENST00000674662.1:c.1614C>T	ENSP00000501895.1:p.Ile538=
ENST00000674757.1:c.1614C>T	ENSP00000502202.1:p.Ile538=
ENST00000674822.1:c.1498C>T	ENSP00000501552.1:n.1498C>T
ENST00000674846.1:c.1614C>T	ENSP00000502431.1:p.Ile538=
ENST00000674857.1:c.1603C>T	ENSP00000501687.1:n.1603C>T
ENST00000674960.1:c.1472C>T	ENSP00000501841.1:n.1472C>T
ENST00000674991.1:c.986-555C>T	ENSP00000502004.1:n.986-555C>T
ENST00000674994.1:c.1580C>T	ENSP00000502442.1:n.1580C>T
ENST00000675207.1:c.1710C>T	ENSP00000502644.1:p.Ile570=
ENST00000675329.1:c.1590C>T	ENSP00000502287.1:p.Ile530=
ENST00000675481.1:c.1614C>T	ENSP00000502723.1:p.Ile538=
ENST00000675583.1:c.1614C>T	ENSP00000501740.1:p.Ile538=
ENST00000675638.1:c.1614C>T	ENSP00000501647.1:p.Ile538=
ENST00000675724.1:c.1614C>T	ENSP00000502576.1:p.Ile538=
ENST00000675771.1:c.877C>T	ENSP00000502104.1:p.Arg293Cys
ENST00000675797.1:c.1019C>T	ENSP00000502023.1:p.Ser340Leu
ENST00000675809.1:c.1614C>T	ENSP00000502587.1:p.Ile538=
ENST00000675930.1:c.1614C>T	ENSP00000502456.1:p.Ile538=
ENST00000675980.1:c.1614C>T	ENSP00000502520.1:p.Ile538=
ENST00000676016.1:c.1614C>T	ENSP00000502412.1:p.Ile538=
ENST00000676366.1:c.1614C>T	ENSP00000501605.1:p.Ile538=
ENST00000252527.8:c.18C>T	ENSP00000252527.8:p.Ile6=
ENST00000330634.11:c.1614C>T	ENSP00000376406.3:p.Ile538=
ENST00000392634.8:c.1614C>T	ENSP00000376410.4:p.Ile538=
ENST00000617571.4:c.-2510C>T	ENSP00000483829.1:n.-2510C>T
NM_001031714.3:c.1614C>T	NP_001026884.3:p.Ile538=
NM_022489.3:c.1614C>T	NP_071934.3:p.Ile538=
XM_005268004.3:c.1710C>T	XP_005268061.1:p.Ile570=
XM_005268005.3:c.1710C>T	XP_005268062.1:p.Ile570=
XR_943507.1:n.1839C>T
XM_005268004.4:c.1710C>T	XP_005268061.1:p.Ile570=
XM_005268005.4:c.1710C>T	XP_005268062.1:p.Ile570=
XM_017021595.1:c.1710C>T	XP_016877084.1:p.Ile570=
XR_001750518.1:n.1815C>T
NM_001031714.4:c.1614C>T	NP_001026884.3:p.Ile538=
NM_022489.4:c.1614C>T MANE Select	NP_071934.3:p.Ile538=