Canonical Allele Identifier: CA3074906

Gene: INTU

Linked Data

• ClinVar Variation Id: 504483
• ClinVar RCV Id: RCV002532709
• dbSNP Id: rs373900644
• ExAC: 4:128584593 C / T
• gnomAD v2: 4-128584593-C-T
• gnomAD v3: 4-127663438-C-T
• gnomAD v4: 4-127663438-C-T
• MyVariant Identifiers: chr4:g.128584593C>T (hg19) ; chr4:g.127663438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127663438C>T , CM000666.2:g.127663438C>T	GRCh38
NC_000004.11:g.128584593C>T , CM000666.1:g.128584593C>T	GRCh37
NC_000004.10:g.128804043C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000335251.11:c.826C>T MANE Select	ENSP00000334003.5:p.Gln276Ter
ENST00000335251.10:c.826C>T	ENSP00000334003.5:p.Gln276Ter
ENST00000503626.5:c.826C>T	ENSP00000426287.1:p.Gln276Ter
ENST00000503952.5:c.826C>T	ENSP00000421995.1:p.Gln276Ter
NM_015693.3:c.826C>T	NP_056508.2:p.Gln276Ter
XM_011531844.1:c.826C>T	XP_011530146.1:p.Gln276Ter
XM_011531845.1:c.826C>T	XP_011530147.1:p.Gln276Ter
XM_011531846.1:c.769C>T	XP_011530148.1:p.Gln257Ter
XM_011531847.1:c.-255C>T	XP_011530149.1:n.-255C>T
XM_011531849.1:c.826C>T	XP_011530151.1:p.Gln276Ter
XM_011531850.1:c.826C>T	XP_011530152.1:p.Gln276Ter
XM_011531851.1:c.826C>T	XP_011530153.1:p.Gln276Ter
XR_938720.1:n.929C>T
XM_011531844.3:c.826C>T	XP_011530146.1:p.Gln276Ter
XM_011531845.3:c.826C>T	XP_011530147.1:p.Gln276Ter
XM_011531849.3:c.826C>T	XP_011530151.1:p.Gln276Ter
XM_011531850.3:c.826C>T	XP_011530152.1:p.Gln276Ter
XM_011531851.3:c.826C>T	XP_011530153.1:p.Gln276Ter
XM_017008026.2:c.826C>T	XP_016863515.1:p.Gln276Ter
XR_001741201.1:n.901C>T
NM_015693.4:c.826C>T MANE Select	NP_056508.2:p.Gln276Ter