Canonical Allele Identifier: CA395661394
Community Standard Title: NM_024706.5(ZNF668):c.1549G>C (p.Val517Leu)
Gene: ZNF668 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31061379C>G , CM000678.2:g.31061379C>G GRCh38
NC_000016.9:g.31072700C>G , CM000678.1:g.31072700C>G GRCh37
NC_000016.8:g.30980201C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_024706.5:c.1549G>C MANE Select NP_078982.3:p.Val517Leu
ENST00000300849.5:c.1549G>C MANE Select ENSP00000300849.4:p.Val517Leu
NM_001172668.1:c.1549G>C NP_001166139.1:p.Val517Leu
NM_001172668.2:c.1549G>C NP_001166139.1:p.Val517Leu
NM_001172669.1:c.1618G>C NP_001166140.1:p.Val540Leu
NM_001172669.2:c.1618G>C NP_001166140.1:p.Val540Leu
NM_001172670.1:c.1549G>C NP_001166141.1:p.Val517Leu
NM_001172670.2:c.1549G>C NP_001166141.1:p.Val517Leu
NM_024706.4:c.1549G>C NP_078982.3:p.Val517Leu
ENST00000300849.4:c.1549G>C ENSP00000300849.4:p.Val517Leu
ENST00000394983.6:c.1549G>C ENSP00000378434.2:p.Val517Leu
ENST00000426488.6:c.1618G>C ENSP00000403975.2:p.Val540Leu
ENST00000535577.5:c.1549G>C ENSP00000441349.1:p.Val517Leu
ENST00000538906.5:c.1549G>C ENSP00000440149.1:p.Val517Leu
ENST00000539836.3:c.1618G>C ENSP00000442573.3:p.Val540Leu
XM_011545949.1:c.1618G>C XP_011544251.1:p.Val540Leu