Canonical Allele Identifier: CA350505

Gene: INVS

Linked Data

• ClinVar Variation Id: 220405
• ClinVar RCV Id: RCV000206479 ; RCV001095342 ; RCV000595326 ; RCV003937782
• dbSNP Id: rs115042730
• ExAC: 9:103046762 G / A
• gnomAD v2: 9-103046762-G-A
• gnomAD v3: 9-100284480-G-A
• gnomAD v4: 9-100284480-G-A
• MyVariant Identifiers: chr9:g.103046762G>A (hg19) ; chr9:g.100284480G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100284480G>A , CM000671.2:g.100284480G>A	GRCh38
NC_000009.11:g.103046762G>A , CM000671.1:g.103046762G>A	GRCh37
NC_000009.10:g.102086583G>A	NCBI36
NG_008316.1:g.190252G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262457.7:c.1945G>A MANE Select	ENSP00000262457.2:p.Val649Met
ENST00000262456.6:c.1945G>A	ENSP00000262456.2:p.Val649Met
ENST00000262457.6:c.1945G>A	ENSP00000262457.2:p.Val649Met
NM_014425.3:c.1945G>A	NP_055240.2:p.Val649Met
NM_183245.2:c.1945G>A	NP_899068.1:p.Val649Met
NR_051962.1:n.2254G>A
XM_005251923.3:c.1945G>A	XP_005251980.1:p.Val649Met
XM_005251924.3:c.1657G>A	XP_005251981.1:p.Val553Met
XM_011518531.1:c.1945G>A	XP_011516833.1:p.Val649Met
XM_011518532.1:c.1945G>A	XP_011516834.1:p.Val649Met
XM_011518533.1:c.1945G>A	XP_011516835.1:p.Val649Met
XM_011518534.1:c.1657G>A	XP_011516836.1:p.Val553Met
XM_011518535.1:c.1657G>A	XP_011516837.1:p.Val553Met
XM_011518536.1:c.1657G>A	XP_011516838.1:p.Val553Met
XM_011518537.1:c.1657G>A	XP_011516839.1:p.Val553Met
XM_011518538.1:c.1657G>A	XP_011516840.1:p.Val553Met
XM_011518539.1:c.1624G>A	XP_011516841.1:p.Val542Met
XM_011518540.1:c.1624G>A	XP_011516842.1:p.Val542Met
XM_011518541.1:c.1624G>A	XP_011516843.1:p.Val542Met
XM_011518542.1:c.1657G>A	XP_011516844.1:p.Val553Met
XM_011518543.1:c.967G>A	XP_011516845.1:p.Val323Met
XM_011518544.1:c.967G>A	XP_011516846.1:p.Val323Met
XR_242585.1:n.2201G>A
XR_242586.1:n.2201G>A
XR_428522.1:n.2201G>A
NM_001318381.1:c.1657G>A	NP_001305310.1:p.Val553Met
NM_001318382.1:c.967G>A	NP_001305311.1:p.Val323Met
NM_014425.4:c.1945G>A	NP_055240.2:p.Val649Met
NR_134606.1:n.2201G>A
NM_014425.5:c.1945G>A MANE Select	NP_055240.2:p.Val649Met
NM_001318381.2:c.1657G>A	NP_001305310.1:p.Val553Met
NM_001318382.2:c.967G>A	NP_001305311.1:p.Val323Met
NR_134606.2:n.2143G>A