Canonical Allele Identifier: CA10647012

Gene: CANT1

Linked Data

• ClinVar Variation Id: 325720
• ClinVar RCV Id: RCV000304375
• dbSNP Id: rs886053533
• gnomAD v2: 17-77005832-G-A
• gnomAD v3: 17-79009750-G-A
• gnomAD v4: 17-79009750-G-A
• MyVariant Identifiers: chr17:g.77005832G>A (hg19) ; chr17:g.79009750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.79009750G>A , CM000679.2:g.79009750G>A	GRCh38
NC_000017.10:g.77005832G>A , CM000679.1:g.77005832G>A	GRCh37
NC_000017.9:g.74517427G>A	NCBI36
NG_016645.1:g.5068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392446.10:c.-233C>T MANE Select	ENSP00000376241.4:n.-233C>T
ENST00000302345.6:c.-428C>T	ENSP00000307674.2:n.-428C>T
ENST00000586916.6:c.-543C>T	ENSP00000467970.1:n.-543C>T
ENST00000587242.5:n.44C>T
ENST00000588075.5:c.-599C>T	ENSP00000465769.1:n.-599C>T
ENST00000588611.5:c.-514C>T	ENSP00000465816.1:n.-514C>T
ENST00000590370.5:c.-404C>T	ENSP00000466637.1:n.-404C>T
ENST00000591625.5:c.-538C>T	ENSP00000467777.1:n.-538C>T
ENST00000591732.1:n.44C>T
ENST00000591773.5:c.-372C>T	ENSP00000467437.1:n.-372C>T
ENST00000591811.1:c.-233C>T	ENSP00000464841.1:n.-233C>T
ENST00000592033.5:c.-343C>T	ENSP00000467886.1:n.-343C>T
ENST00000592228.1:c.-109C>T	ENSP00000466743.1:n.-109C>T
NM_001159772.1:c.-372C>T	NP_001153244.1:n.-372C>T
NM_001159773.1:c.-233C>T	NP_001153245.1:n.-233C>T
NM_138793.3:c.-428C>T	NP_620148.1:n.-428C>T
XM_005257020.1:c.-599C>T	XP_005257077.1:n.-599C>T
XM_005257022.1:c.-404C>T	XP_005257079.1:n.-404C>T
XM_006721683.1:c.-543C>T	XP_006721746.1:n.-543C>T
XM_011524291.1:c.-848C>T	XP_011522593.1:n.-848C>T
XM_011524293.1:c.-738C>T	XP_011522595.1:n.-738C>T
XM_011524295.1:c.-514C>T	XP_011522597.1:n.-514C>T
XM_011524295.2:c.-514C>T	XP_011522597.1:n.-514C>T
XM_024450564.1:c.-538C>T	XP_024306332.1:n.-538C>T
XR_001752424.2:n.17C>T
NM_001159773.2:c.-233C>T MANE Select	NP_001153245.1:n.-233C>T
NM_001159772.2:c.-372C>T	NP_001153244.1:n.-372C>T
NM_138793.4:c.-428C>T	NP_620148.1:n.-428C>T