Canonical Allele Identifier: CA358139675

Gene: INTU

Linked Data

• dbSNP Id: rs373900644
• gnomAD v2: 4-128584593-C-G
• gnomAD v3: 4-127663438-C-G
• gnomAD v4: 4-127663438-C-G
• MyVariant Identifiers: chr4:g.128584593C>G (hg19) ; chr4:g.127663438C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000335251.11:c.826C>G MANE Select	ENSP00000334003.5:p.Gln276Glu
ENST00000335251.10:c.826C>G	ENSP00000334003.5:p.Gln276Glu
ENST00000503626.5:c.826C>G	ENSP00000426287.1:p.Gln276Glu
ENST00000503952.5:c.826C>G	ENSP00000421995.1:p.Gln276Glu
NM_015693.3:c.826C>G	NP_056508.2:p.Gln276Glu
XM_011531844.1:c.826C>G	XP_011530146.1:p.Gln276Glu
XM_011531845.1:c.826C>G	XP_011530147.1:p.Gln276Glu
XM_011531846.1:c.769C>G	XP_011530148.1:p.Gln257Glu
XM_011531847.1:c.-255C>G	XP_011530149.1:n.-255C>G
XM_011531849.1:c.826C>G	XP_011530151.1:p.Gln276Glu
XM_011531850.1:c.826C>G	XP_011530152.1:p.Gln276Glu
XM_011531851.1:c.826C>G	XP_011530153.1:p.Gln276Glu
XR_938720.1:n.929C>G
XM_011531844.3:c.826C>G	XP_011530146.1:p.Gln276Glu
XM_011531845.3:c.826C>G	XP_011530147.1:p.Gln276Glu
XM_011531849.3:c.826C>G	XP_011530151.1:p.Gln276Glu
XM_011531850.3:c.826C>G	XP_011530152.1:p.Gln276Glu
XM_011531851.3:c.826C>G	XP_011530153.1:p.Gln276Glu
XM_017008026.2:c.826C>G	XP_016863515.1:p.Gln276Glu
XR_001741201.1:n.901C>G
NM_015693.4:c.826C>G MANE Select	NP_056508.2:p.Gln276Glu