Canonical Allele Identifier: CA8219719
Gene: ZCCHC14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87411804C>T , CM000678.2:g.87411804C>T GRCh38
NC_000016.9:g.87445410C>T , CM000678.1:g.87445410C>T GRCh37
NC_000016.8:g.86002911C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015144.3:c.2917G>A MANE Select NP_055959.2:p.Val973Ile
ENST00000671377.2:c.2917G>A MANE Select ENSP00000499622.1:p.Val973Ile
NM_015144.2:c.2506G>A NP_055959.1:p.Val836Ile
ENST00000268616.8:c.2506G>A ENSP00000268616.4:p.Val836Ile
ENST00000268616.9:c.2506G>A ENSP00000268616.4:p.Val836Ile
ENST00000561928.1:c.2156G>A
ENST00000568020.5:c.2506G>A ENSP00000455431.1:p.Val836Ile
ENST00000568020.6:c.2538G>A
XM_005255858.3:c.2506G>A XP_005255915.2:p.Val836Ile
XM_017023082.2:c.2398G>A XP_016878571.1:p.Val800Ile
XR_243401.3:n.2724G>A