Canonical Allele Identifier: CA5158084

Gene: INVS

Linked Data

• ClinVar Variation Id: 364221
• ClinVar RCV Id: RCV000399541 ; RCV000734866 ; RCV001448682 ; RCV003912559
• dbSNP Id: rs148219510
• ExAC: 9:102888676 C / G
• gnomAD v2: 9-102888676-C-G
• gnomAD v3: 9-100126394-C-G
• gnomAD v4: 9-100126394-C-G
• MyVariant Identifiers: chr9:g.102888676C>G (hg19) ; chr9:g.100126394C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100126394C>G , CM000671.2:g.100126394C>G	GRCh38
NC_000009.11:g.102888676C>G , CM000671.1:g.102888676C>G	GRCh37
NC_000009.10:g.101928497C>G	NCBI36
NG_008316.1:g.32166C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262457.7:c.118C>G MANE Select	ENSP00000262457.2:p.Leu40Val
ENST00000262456.6:c.118C>G	ENSP00000262456.2:p.Leu40Val
ENST00000262457.6:c.118C>G	ENSP00000262457.2:p.Leu40Val
ENST00000374921.3:c.118C>G	ENSP00000364056.3:p.Leu40Val
ENST00000460636.2:n.101C>G
ENST00000466647.5:n.256C>G
ENST00000496467.5:n.298C>G
NM_014425.3:c.118C>G	NP_055240.2:p.Leu40Val
NM_183245.2:c.118C>G	NP_899068.1:p.Leu40Val
NR_051962.1:n.339C>G
XM_005251923.3:c.118C>G	XP_005251980.1:p.Leu40Val
XM_005251924.3:c.-256C>G	XP_005251981.1:n.-256C>G
XM_011518531.1:c.118C>G	XP_011516833.1:p.Leu40Val
XM_011518532.1:c.118C>G	XP_011516834.1:p.Leu40Val
XM_011518533.1:c.118C>G	XP_011516835.1:p.Leu40Val
XM_011518534.1:c.-375C>G	XP_011516836.1:n.-375C>G
XM_011518535.1:c.-259C>G	XP_011516837.1:n.-259C>G
XM_011518536.1:c.-256C>G	XP_011516838.1:n.-256C>G
XM_011518539.1:c.-251C>G	XP_011516841.1:n.-251C>G
XM_011518542.1:c.-444C>G	XP_011516844.1:n.-444C>G
XM_011518543.1:c.-872C>G	XP_011516845.1:n.-872C>G
XR_242585.1:n.374C>G
XR_242586.1:n.374C>G
XR_428522.1:n.374C>G
NM_001318381.1:c.-259C>G	NP_001305310.1:n.-259C>G
NM_001318382.1:c.-872C>G	NP_001305311.1:n.-872C>G
NM_014425.4:c.118C>G	NP_055240.2:p.Leu40Val
NR_134606.1:n.374C>G
NM_014425.5:c.118C>G MANE Select	NP_055240.2:p.Leu40Val
NM_001318381.2:c.-259C>G	NP_001305310.1:n.-259C>G
NM_001318382.2:c.-872C>G	NP_001305311.1:n.-872C>G
NR_134606.2:n.316C>G