Canonical Allele Identifier: CA10628563

Gene: INVS

Linked Data

• ClinVar Variation Id: 364220
• ClinVar RCV Id: RCV000342643 ; RCV000454990 ; RCV001517971 ; RCV002294323
• dbSNP Id: rs7024375
• gnomAD v2: 9-102861613-T-G
• gnomAD v3: 9-100099331-T-G
• gnomAD v4: 9-100099331-T-G
• MyVariant Identifiers: chr9:g.102861613T>G (hg19) ; chr9:g.100099331T>G (hg38)
• PubMed: PMID:18218308

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100099331T>G , CM000671.2:g.100099331T>G	GRCh38
NC_000009.11:g.102861613T>G , CM000671.1:g.102861613T>G	GRCh37
NC_000009.10:g.101901434T>G	NCBI36
NG_008316.1:g.5103T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262457.7:c.-110T>G MANE Select	ENSP00000262457.2:n.-110T>G
ENST00000262456.6:c.-110T>G	ENSP00000262456.2:n.-110T>G
ENST00000262457.6:c.-110T>G	ENSP00000262457.2:n.-110T>G
ENST00000374921.3:c.-110T>G	ENSP00000364056.3:n.-110T>G
ENST00000466647.5:n.29T>G
ENST00000480309.1:n.60T>G
ENST00000496467.5:n.71T>G
NM_014425.3:c.-110T>G	NP_055240.2:n.-110T>G
NM_183245.2:c.-110T>G	NP_899068.1:n.-110T>G
NR_051962.1:n.112T>G
XM_005251923.3:c.-110T>G	XP_005251980.1:n.-110T>G
XM_005251924.3:c.-483T>G	XP_005251981.1:n.-483T>G
XM_011518532.1:c.-221T>G	XP_011516834.1:n.-221T>G
XM_011518533.1:c.-110T>G	XP_011516835.1:n.-110T>G
XM_011518534.1:c.-602T>G	XP_011516836.1:n.-602T>G
XM_011518535.1:c.-486T>G	XP_011516837.1:n.-486T>G
XM_011518536.1:c.-594T>G	XP_011516838.1:n.-594T>G
XM_011518539.1:c.-478T>G	XP_011516841.1:n.-478T>G
XM_011518542.1:c.-671T>G	XP_011516844.1:n.-671T>G
XM_011518543.1:c.-1099T>G	XP_011516845.1:n.-1099T>G
XR_242585.1:n.147T>G
XR_242586.1:n.147T>G
XR_428522.1:n.147T>G
NM_001318381.1:c.-486T>G	NP_001305310.1:n.-486T>G
NM_001318382.1:c.-1099T>G	NP_001305311.1:n.-1099T>G
NM_014425.4:c.-110T>G	NP_055240.2:n.-110T>G
NR_134606.1:n.147T>G
NM_014425.5:c.-110T>G MANE Select	NP_055240.2:n.-110T>G
NM_001318381.2:c.-486T>G	NP_001305310.1:n.-486T>G
NM_001318382.2:c.-1099T>G	NP_001305311.1:n.-1099T>G
NR_134606.2:n.89T>G