Canonical Allele Identifier: CA223137

Gene: INVS

Linked Data

• ClinVar Variation Id: 95593
• ClinVar RCV Id: RCV000081625 ; RCV001169333
• dbSNP Id: rs181463817
• ExAC: 9:102866787 C / T
• gnomAD v2: 9-102866787-C-T
• gnomAD v3: 9-100104505-C-T
• gnomAD v4: 9-100104505-C-T
• MyVariant Identifiers: chr9:g.102866787C>T (hg19) ; chr9:g.100104505C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100104505C>T , CM000671.2:g.100104505C>T	GRCh38
NC_000009.11:g.102866787C>T , CM000671.1:g.102866787C>T	GRCh37
NC_000009.10:g.101906608C>T	NCBI36
NG_008316.1:g.10277C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262457.7:c.-17C>T MANE Select	ENSP00000262457.2:n.-17C>T
ENST00000262456.6:c.-17C>T	ENSP00000262456.2:n.-17C>T
ENST00000262457.6:c.-17C>T	ENSP00000262457.2:n.-17C>T
ENST00000374921.3:c.-17C>T	ENSP00000364056.3:n.-17C>T
ENST00000466647.5:n.122C>T
ENST00000496467.5:n.164C>T
NM_014425.3:c.-17C>T	NP_055240.2:n.-17C>T
NM_183245.2:c.-17C>T	NP_899068.1:n.-17C>T
NR_051962.1:n.205C>T
XM_005251923.3:c.-17C>T	XP_005251980.1:n.-17C>T
XM_005251924.3:c.-390C>T	XP_005251981.1:n.-390C>T
XM_011518531.1:c.-17C>T	XP_011516833.1:n.-17C>T
XM_011518532.1:c.-17C>T	XP_011516834.1:n.-17C>T
XM_011518533.1:c.-17C>T	XP_011516835.1:n.-17C>T
XM_011518534.1:c.-509C>T	XP_011516836.1:n.-509C>T
XM_011518535.1:c.-393C>T	XP_011516837.1:n.-393C>T
XM_011518536.1:c.-390C>T	XP_011516838.1:n.-390C>T
XM_011518539.1:c.-385C>T	XP_011516841.1:n.-385C>T
XM_011518542.1:c.-578C>T	XP_011516844.1:n.-578C>T
XM_011518543.1:c.-1006C>T	XP_011516845.1:n.-1006C>T
XR_242585.1:n.240C>T
XR_242586.1:n.240C>T
XR_428522.1:n.240C>T
NM_001318381.1:c.-393C>T	NP_001305310.1:n.-393C>T
NM_001318382.1:c.-1006C>T	NP_001305311.1:n.-1006C>T
NM_014425.4:c.-17C>T	NP_055240.2:n.-17C>T
NR_134606.1:n.240C>T
NM_014425.5:c.-17C>T MANE Select	NP_055240.2:n.-17C>T
NM_001318381.2:c.-393C>T	NP_001305310.1:n.-393C>T
NM_001318382.2:c.-1006C>T	NP_001305311.1:n.-1006C>T
NR_134606.2:n.182C>T