Canonical Allele Identifier: CA374361656
Gene: INVS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.100240148C>G , CM000671.2:g.100240148C>G GRCh38
NC_000009.11:g.103002430C>G , CM000671.1:g.103002430C>G GRCh37
NC_000009.10:g.102042251C>G NCBI36
NG_008316.1:g.145920C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262457.7:c.704C>G MANE Select ENSP00000262457.2:p.Thr235Ser
ENST00000262456.6:c.704C>G ENSP00000262456.2:p.Thr235Ser
ENST00000262457.6:c.704C>G ENSP00000262457.2:p.Thr235Ser
NM_014425.3:c.704C>G NP_055240.2:p.Thr235Ser
NM_183245.2:c.704C>G NP_899068.1:p.Thr235Ser
NR_051962.1:n.1013C>G
XM_005251923.3:c.704C>G XP_005251980.1:p.Thr235Ser
XM_005251924.3:c.416C>G XP_005251981.1:p.Thr139Ser
XM_011518531.1:c.704C>G XP_011516833.1:p.Thr235Ser
XM_011518532.1:c.704C>G XP_011516834.1:p.Thr235Ser
XM_011518533.1:c.704C>G XP_011516835.1:p.Thr235Ser
XM_011518534.1:c.416C>G XP_011516836.1:p.Thr139Ser
XM_011518535.1:c.416C>G XP_011516837.1:p.Thr139Ser
XM_011518536.1:c.416C>G XP_011516838.1:p.Thr139Ser
XM_011518537.1:c.416C>G XP_011516839.1:p.Thr139Ser
XM_011518538.1:c.416C>G XP_011516840.1:p.Thr139Ser
XM_011518539.1:c.383C>G XP_011516841.1:p.Thr128Ser
XM_011518540.1:c.383C>G XP_011516842.1:p.Thr128Ser
XM_011518541.1:c.383C>G XP_011516843.1:p.Thr128Ser
XM_011518542.1:c.416C>G XP_011516844.1:p.Thr139Ser
XM_011518543.1:c.-286C>G XP_011516845.1:n.-286C>G
XR_242585.1:n.960C>G
XR_242586.1:n.960C>G
XR_428522.1:n.960C>G
NM_001318381.1:c.416C>G NP_001305310.1:p.Thr139Ser
NM_001318382.1:c.-286C>G NP_001305311.1:n.-286C>G
NM_014425.4:c.704C>G NP_055240.2:p.Thr235Ser
NR_134606.1:n.960C>G
NM_014425.5:c.704C>G MANE Select NP_055240.2:p.Thr235Ser
NM_001318381.2:c.416C>G NP_001305310.1:p.Thr139Ser
NM_001318382.2:c.-286C>G NP_001305311.1:n.-286C>G
NR_134606.2:n.902C>G