Canonical Allele Identifier: CA243424

Gene: INVS

Linked Data

• ClinVar Variation Id: 196466
• ClinVar RCV Id: RCV000177284 ; RCV001085128 ; RCV003907594
• dbSNP Id: rs114056499
• ExAC: 9:102888672 T / C
• gnomAD v2: 9-102888672-T-C
• gnomAD v3: 9-100126390-T-C
• gnomAD v4: 9-100126390-T-C
• MyVariant Identifiers: chr9:g.102888672T>C (hg19) ; chr9:g.100126390T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100126390T>C , CM000671.2:g.100126390T>C	GRCh38
NC_000009.11:g.102888672T>C , CM000671.1:g.102888672T>C	GRCh37
NC_000009.10:g.101928493T>C	NCBI36
NG_008316.1:g.32162T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262457.7:c.114T>C MANE Select	ENSP00000262457.2:p.Ser38=
ENST00000262456.6:c.114T>C	ENSP00000262456.2:p.Ser38=
ENST00000262457.6:c.114T>C	ENSP00000262457.2:p.Ser38=
ENST00000374921.3:c.114T>C	ENSP00000364056.3:p.Ser38=
ENST00000460636.2:n.97T>C
ENST00000466647.5:n.252T>C
ENST00000496467.5:n.294T>C
NM_014425.3:c.114T>C	NP_055240.2:p.Ser38=
NM_183245.2:c.114T>C	NP_899068.1:p.Ser38=
NR_051962.1:n.335T>C
XM_005251923.3:c.114T>C	XP_005251980.1:p.Ser38=
XM_005251924.3:c.-260T>C	XP_005251981.1:n.-260T>C
XM_011518531.1:c.114T>C	XP_011516833.1:p.Ser38=
XM_011518532.1:c.114T>C	XP_011516834.1:p.Ser38=
XM_011518533.1:c.114T>C	XP_011516835.1:p.Ser38=
XM_011518534.1:c.-379T>C	XP_011516836.1:n.-379T>C
XM_011518535.1:c.-263T>C	XP_011516837.1:n.-263T>C
XM_011518536.1:c.-260T>C	XP_011516838.1:n.-260T>C
XM_011518539.1:c.-255T>C	XP_011516841.1:n.-255T>C
XM_011518542.1:c.-448T>C	XP_011516844.1:n.-448T>C
XM_011518543.1:c.-876T>C	XP_011516845.1:n.-876T>C
XR_242585.1:n.370T>C
XR_242586.1:n.370T>C
XR_428522.1:n.370T>C
NM_001318381.1:c.-263T>C	NP_001305310.1:n.-263T>C
NM_001318382.1:c.-876T>C	NP_001305311.1:n.-876T>C
NM_014425.4:c.114T>C	NP_055240.2:p.Ser38=
NR_134606.1:n.370T>C
NM_014425.5:c.114T>C MANE Select	NP_055240.2:p.Ser38=
NM_001318381.2:c.-263T>C	NP_001305310.1:n.-263T>C
NM_001318382.2:c.-876T>C	NP_001305311.1:n.-876T>C
NR_134606.2:n.312T>C