Canonical Allele Identifier: CA5158771

Gene: INVS

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100297946C>T , CM000671.2:g.100297946C>T	GRCh38
NC_000009.11:g.103060228C>T , CM000671.1:g.103060228C>T	GRCh37
NC_000009.10:g.102100049C>T	NCBI36
NG_008316.1:g.203718C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262457.7:c.3027C>T MANE Select	ENSP00000262457.2:p.His1009=
ENST00000262456.6:c.2517C>T	ENSP00000262456.2:p.His839=
ENST00000262457.6:c.3027C>T	ENSP00000262457.2:p.His1009=
NM_014425.3:c.3027C>T	NP_055240.2:p.His1009=
NM_183245.2:c.2517C>T	NP_899068.1:p.His839=
NR_051962.1:n.3336C>T
XM_005251923.3:c.3027C>T	XP_005251980.1:p.His1009=
XM_005251924.3:c.2739C>T	XP_005251981.1:p.His913=
XM_011518531.1:c.3027C>T	XP_011516833.1:p.His1009=
XM_011518532.1:c.3027C>T	XP_011516834.1:p.His1009=
XM_011518533.1:c.3027C>T	XP_011516835.1:p.His1009=
XM_011518534.1:c.2739C>T	XP_011516836.1:p.His913=
XM_011518535.1:c.2739C>T	XP_011516837.1:p.His913=
XM_011518536.1:c.2739C>T	XP_011516838.1:p.His913=
XM_011518537.1:c.2739C>T	XP_011516839.1:p.His913=
XM_011518538.1:c.2739C>T	XP_011516840.1:p.His913=
XM_011518539.1:c.2706C>T	XP_011516841.1:p.His902=
XM_011518540.1:c.2706C>T	XP_011516842.1:p.His902=
XM_011518541.1:c.2706C>T	XP_011516843.1:p.His902=
XM_011518542.1:c.2229C>T	XP_011516844.1:p.His743=
XM_011518543.1:c.2049C>T	XP_011516845.1:p.His683=
XM_011518544.1:c.2049C>T	XP_011516846.1:p.His683=
XR_242585.1:n.3210C>T
XR_242586.1:n.3234C>T
XR_428522.1:n.2724C>T
NM_001318381.1:c.2739C>T	NP_001305310.1:p.His913=
NM_001318382.1:c.2049C>T	NP_001305311.1:p.His683=
NM_014425.4:c.3027C>T	NP_055240.2:p.His1009=
NR_134606.1:n.3234C>T
NM_014425.5:c.3027C>T MANE Select	NP_055240.2:p.His1009=
NM_001318381.2:c.2739C>T	NP_001305310.1:p.His913=
NM_001318382.2:c.2049C>T	NP_001305311.1:p.His683=
NR_134606.2:n.3176C>T