Canonical Allele Identifier: CA274581460
Community Standard Title: NM_198525.3(KIF7):c.1789-2A>G
Gene: KIF7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89646028T>C , CM000677.2:g.89646028T>C GRCh38
NC_000015.9:g.90189259T>C , CM000677.1:g.90189259T>C GRCh37
NC_000015.8:g.87990263T>C NCBI36
NG_030338.1:g.14424A>G

Transcript Alleles

HGVS Amino-acid Change
NM_198525.3:c.1789-2A>G MANE Select NP_940927.2:n.1789-2A>G
ENST00000394412.8:c.1789-2A>G MANE Select ENSP00000377934.3:n.1789-2A>G
NM_198525.2:c.1789-2A>G NP_940927.2:n.1789-2A>G
ENST00000394412.7:c.1789-2A>G ENSP00000377934.3:n.1789-2A>G
ENST00000696512.1:c.1912-2A>G ENSP00000512678.1:n.1912-2A>G
XM_005254902.2:c.1789-2A>G XP_005254959.1:n.1789-2A>G
XM_011521531.1:c.1912-2A>G XP_011519833.1:n.1912-2A>G
XM_011521531.2:c.1912-2A>G XP_011519833.1:n.1912-2A>G
XM_011521532.1:c.1912-2A>G XP_011519834.1:n.1912-2A>G
XM_011521533.1:c.1912-5A>G XP_011519835.1:n.1912-5A>G
XM_011521534.1:c.1912-2A>G XP_011519836.1:n.1912-2A>G
XM_011521535.1:c.1912-2A>G XP_011519837.1:n.1912-2A>G
XM_011521536.1:c.1912-2A>G XP_011519838.1:n.1912-2A>G
XM_011521537.1:c.1912-2A>G XP_011519839.1:n.1912-2A>G