Canonical Allele Identifier: CA197186430

Gene: INVS

Linked Data

• dbSNP Id: rs1055008821
• gnomAD v2: 9-103002407-T-G
• gnomAD v3: 9-100240125-T-G
• gnomAD v4: 9-100240125-T-G
• MyVariant Identifiers: chr9:g.103002407T>G (hg19) ; chr9:g.100240125T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100240125T>G , CM000671.2:g.100240125T>G	GRCh38
NC_000009.11:g.103002407T>G , CM000671.1:g.103002407T>G	GRCh37
NC_000009.10:g.102042228T>G	NCBI36
NG_008316.1:g.145897T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262457.7:c.681T>G MANE Select	ENSP00000262457.2:p.Phe227Leu
ENST00000262456.6:c.681T>G	ENSP00000262456.2:p.Phe227Leu
ENST00000262457.6:c.681T>G	ENSP00000262457.2:p.Phe227Leu
ENST00000460636.2:n.953T>G
NM_014425.3:c.681T>G	NP_055240.2:p.Phe227Leu
NM_183245.2:c.681T>G	NP_899068.1:p.Phe227Leu
NR_051962.1:n.990T>G
XM_005251923.3:c.681T>G	XP_005251980.1:p.Phe227Leu
XM_005251924.3:c.393T>G	XP_005251981.1:p.Phe131Leu
XM_011518531.1:c.681T>G	XP_011516833.1:p.Phe227Leu
XM_011518532.1:c.681T>G	XP_011516834.1:p.Phe227Leu
XM_011518533.1:c.681T>G	XP_011516835.1:p.Phe227Leu
XM_011518534.1:c.393T>G	XP_011516836.1:p.Phe131Leu
XM_011518535.1:c.393T>G	XP_011516837.1:p.Phe131Leu
XM_011518536.1:c.393T>G	XP_011516838.1:p.Phe131Leu
XM_011518537.1:c.393T>G	XP_011516839.1:p.Phe131Leu
XM_011518538.1:c.393T>G	XP_011516840.1:p.Phe131Leu
XM_011518539.1:c.360T>G	XP_011516841.1:p.Phe120Leu
XM_011518540.1:c.360T>G	XP_011516842.1:p.Phe120Leu
XM_011518541.1:c.360T>G	XP_011516843.1:p.Phe120Leu
XM_011518542.1:c.393T>G	XP_011516844.1:p.Phe131Leu
XM_011518543.1:c.-309T>G	XP_011516845.1:n.-309T>G
XR_242585.1:n.937T>G
XR_242586.1:n.937T>G
XR_428522.1:n.937T>G
NM_001318381.1:c.393T>G	NP_001305310.1:p.Phe131Leu
NM_001318382.1:c.-309T>G	NP_001305311.1:n.-309T>G
NM_014425.4:c.681T>G	NP_055240.2:p.Phe227Leu
NR_134606.1:n.937T>G
NM_014425.5:c.681T>G MANE Select	NP_055240.2:p.Phe227Leu
NM_001318381.2:c.393T>G	NP_001305310.1:p.Phe131Leu
NM_001318382.2:c.-309T>G	NP_001305311.1:n.-309T>G
NR_134606.2:n.879T>G